Variant DetailsVariant: esv2421560 | Internal ID | 8252008 | | Landmark | | | Location Information | | | Cytoband | 1q31.3 | | Allele length | | Assembly | Allele length | | hg38 | 92745 | | hg19 | 92745 | | hg18 | 92745 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5048551, essv5130781, essv5022899, essv5026807, essv5017982, essv5026464, essv5137612, essv5026457, essv5009908, essv5114914, essv5099270, essv5131577, essv5084872, essv5067739, essv5117189, essv5104625, essv5066979, essv5046367, essv5068338, essv5145366, essv5104904, essv5097310, essv5047141, essv5120210, essv5059820, essv5153708, essv5010243, essv5111476, essv5026832, essv5120825, essv5094859, essv5018589, essv5057430, essv5069577, essv5089671, essv5002696, essv5106730, essv5019919, essv5150140, essv5139502, essv5123149, essv5027318, essv5082177, essv5055458, essv5154295, essv5052418, essv5153243, essv5040903, essv5085664, essv5006873, essv5093323, essv5045360, essv5030025, essv5149326, essv5142566, essv5045795, essv5022814, essv5057906, essv5120017, essv5124563, essv5101112, essv5097436, essv5060410, essv5046257, essv5109304, essv5096053, essv5152426, essv5140528, essv5058304, essv5160066, essv5151066, essv5010211, essv5153909, essv5009277, essv5106668, essv5004978, essv5002950, essv5122400, essv5029166, essv5122283, essv5007145, essv5095089, essv5159194, essv5082912, essv5029214, essv5108477, essv5031209, essv5112916, essv5112056, essv5052564, essv5031642, essv5094345, essv5015513, essv5143675, essv5018808, essv5030693, essv5022881, essv5130606, essv5111517, essv5079894, essv5058165, essv5036801, essv5093914, essv5069925, essv5058393, essv5017367, essv5005087, essv5040604, essv5091671, essv5067190, essv5031776, essv5078176, essv5098710, essv5120506, essv5008445, essv5018273, essv5027584, essv5059563, essv5075731, essv5049402, essv5065062, essv5136451, essv5099511, essv5085540, essv5154683, essv5069726, essv5026309, essv5057140, essv5134114, essv5009271, essv5003444, essv5097328, essv5149578, essv5043383, essv5061837, essv5023372, essv5128726, essv5037029, essv5070147, essv5094253, essv5037390, essv5049775, essv5080543, essv5144857, essv5121484, essv5153795, essv5033675, essv5082058, essv5125756, essv5059571, essv5057285, essv5150490, essv5127192, essv5073159, essv5137267, essv5047401, essv5114725, essv5160673, essv5033300, essv5112230, essv5076719, essv5085784, essv5075275, essv5133293, essv5126830, essv5006765, essv5122391, essv5055269, essv5024687, essv5098576, essv5045136, essv5056846, essv5002687, essv5109619, essv5063907, essv5084169, essv5142243, essv5019675, essv5110920, essv5127318, essv5061258, essv5061089, essv5158921, essv5079375, essv5123211, essv5054735, essv5077068, essv5049750, essv5114621, essv5105540, essv5158473, essv5040775, essv5104161, essv5014941, essv5045823, essv5143826, essv5087151, essv5031780, essv5055808, essv5124505, essv5117770, essv5084237, essv5112773, essv5135347, essv5157080, essv5022685, essv5145322, essv5121464, essv5069456, essv5158092, essv5118918, essv5074099, essv5014943, essv5033913, essv5064115, essv5069878, essv5035275, essv5021239, essv5065002, essv5159908, essv5090714, essv5140139, essv5018774, essv5154303, essv5157218, essv5049199, essv5141294, essv5018385, essv5143568, essv5041576, essv5131804, essv5159431, essv5141054, essv5121228, essv5151876, essv5026623, essv5118413, essv5112739, essv5106121, essv5040381, essv5160231, essv5097734, essv5029114, essv5124140, essv5030802, essv5088193, essv5140692, essv5147461, essv5127969, essv5108687, essv5043335, essv5159490, essv5119020, essv5131187, essv5032415, essv5132676, essv5131729, essv5090722, essv5090307, essv5119553, essv5104838, essv5066689, essv5104016, essv5072310, essv5015431, essv5010064, essv5045039, essv5127637, essv5105527, essv5153089, essv5013564, essv5125770, essv5134088, essv5081774, essv5094100, essv5070937, essv5115701, essv5041215, essv5062839, essv5011899, essv5146716, essv5130268, essv5079815, essv5062305, essv5042924, essv5079049, essv5149294, essv5010501, essv5107083, essv5044793, essv5036334, essv5047038, essv5119089, essv5090132, essv5142794, essv5115916, essv5156194, essv5106742, essv5127887, essv5098352, essv5024738, essv5148199, essv5021984, essv5048011, essv5048674, essv5113626, essv5136176, essv5083436, essv5151521, essv5085745, essv5044728, essv5098970, essv5087509, essv5072391, essv5009043, essv5019910, essv5056134, essv5107686, essv5029634, essv5094300, essv5015232, essv5073819, essv5003917, essv5035584, essv5142026, essv5131617, essv5011576, essv5008733, essv5095678, essv5069106, essv5070259, essv5084394, essv5061154, essv5059632, essv5123808, essv5045371, essv5028943, essv5139239, essv5009235, essv5028233, essv5131437, essv5120359, essv5073224, essv5042839, essv5008825, essv5144050, essv5142821, essv5099578, essv5088778, essv5008305, essv5136131, essv5032528, essv5107268, essv5140518, essv5019414, essv5101414, essv5122284, essv5133415, essv5012447, essv5095167, essv5150521, essv5020164, essv5121665, essv5062409, essv5088799, essv5046823, essv5041289, essv5078710, essv5091081, essv5076996, essv5127121, essv5025044, essv5014669, essv5024018, essv5034931, essv5039160, essv5154002, essv5030870, essv5013134, essv5058349, essv5149561, essv5009741, essv5132718, essv5141808, essv5060374, essv5062203, essv5025438, essv5153808, essv5060567, essv5088468, essv5116877, essv5125226, essv5053887, essv5083703, essv5132847, essv5086103, essv5159754, essv5132126, essv5102741, essv5025321, essv5068698, essv5056528, essv5004676, essv5041151, essv5137966, essv5076168, essv5146563, essv5109563, essv5143672, essv5013771, essv5029956, essv5138460, essv5032492, essv5127227, essv5102933, essv5141211, essv5158335, essv5064189, essv5017551, essv5081478, essv5081445, essv5155275, essv5144855, essv5111879, essv5084345, essv5022840, essv5048601, essv5065529, essv5026850, essv5111284, essv5111008, essv5019232, essv5083644, essv5054811, essv5039855, essv5158446, essv5111193, essv5092145, essv5085335, essv5130160, essv5128661, essv5073271, essv5107569, essv5098270, essv5099008, essv5142639, essv5058554, essv5050329, essv5117262, essv5051600, essv5025273, essv5117840, essv5080491, essv5066386, essv5120930, essv5117709, essv5004679, essv5094659, essv5020491, essv5113078, essv5095378, essv5159012, essv5141015, essv5051225, essv5151785, essv5042447, essv5054225, essv5141879, essv5021737, essv5105169, essv5154545, essv5128027, essv5018319, essv5067539, essv5017467, essv5036609, essv5135208, essv5060740, essv5085205, essv5155424, essv5134875, essv5036538, essv5131206, essv5100895, essv5102940, essv5151691, essv5020575, essv5009469, essv5130321, essv5124691, essv5047573, essv5161085, essv5097467, essv5028006, essv5145460, essv5136144, essv5058151, essv5066962, essv5146146, essv5025386, essv5135199, essv5068712, essv5112319, essv5109145, essv5107278, essv5156557, essv5023001, essv5014237, essv5055591, essv5035156, essv5067375, essv5079295, essv5023892, essv5143761, essv5107261, essv5083961, essv5024308, essv5066236, essv5051454, essv5120108, essv5079242, essv5056440, essv5065674, essv5143224, essv5052676, essv5063506, essv5158248, essv5088355, essv5053433, essv5031761, essv5030097, essv5017700 | | Samples | NA20588, NA19028, NA21636, NA21317, NA21111, NA20891, NA19399, NA21100, NA11920, NA21489, NA18504, NA21137, NA19377, NA21475, NA21635, NA21776, NA12813, NA19446, NA19127, NA19192, NA19171, NA10835, NA20589, NA12336, NA20756, NA20911, NA20795, NA18916, NA21479, NA20768, NA19650, NA19384, NA20291, NA21574, NA20812, NA18868, NA19172, NA19226, NA19796, NA19239, NA21420, NA21400, NA19985, NA18867, NA19789, NA20755, NA20360, NA21307, NA20892, NA20800, NA19120, NA20297, NA21596, NA19175, NA18674, NA19184, NA19176, NA20883, NA21631, NA20875, NA21438, NA12234, NA18537, NA17979, NA20903, NA19142, NA20901, NA21086, NA18875, NA12829, NA21112, NA11840, NA21295, NA19781, NA19452, NA19132, NA19625, NA21316, NA20319, NA20851, NA19652, NA19440, NA19256, NA18517, NA21144, NA18863, NA19434, NA12057, NA19140, NA18628, NA21528, NA20909, NA20870, NA21336, NA19444, NA21768, NA19010, NA19470, NA19428, NA20281, NA19360, NA12763, NA19182, NA20888, NA20897, NA19328, NA19705, NA19223, NA19779, NA19102, NA18873, NA19121, NA19129, NA21491, NA10837, NA19429, NA18487, NA19431, NA11832, NA18497, NA20284, NA19237, NA20290, NA19700, NA18157, NA20853, NA19186, NA19397, NA18924, NA19466, NA19249, NA20292, NA19122, NA19704, NA18507, NA17975, NA21115, NA12865, NA20346, NA19669, NA19836, NA19190, NA19098, NA12413, NA20861, NA18489, NA19723, NA20900, NA20769, NA19352, NA19131, NA18942, NA19653, NA20540, NA19313, NA12287, NA18498, NA12761, NA21382, NA20896, NA20349, NA19719, NA19915, NA21453, NA12889, NA19159, NA21825, NA20884, NA19189, NA18520, NA21362, NA19665, NA19209, NA12828, NA12375, NA20129, NA12748, NA20818, NA19007, NA19247, NA19657, NA12753, NA12342, NA19462, NA19347, NA18859, NA19391, NA21439, NA21118, NA21098, NA18910, NA19097, NA20344, NA19983, NA19221, NA19118, NA20859, NA18518, NA18499, NA20881, NA20282, NA19225, NA20828, NA19659, NA21573, NA19308, NA18978, NA11882, NA19183, NA11881, NA20295, NA21616, NA21733, NA21647, NA21517, NA21615, NA20504, NA19310, NA19193, NA18869, NA21619, NA21513, NA20887, NA20341, NA19790, NA20333, NA19818, NA19376, NA19143, NA21379, NA19109, NA21364, NA19248, NA19438, NA21404, NA19173, NA12749, NA19713, NA21101, NA18506, NA21614, NA21486, NA21418, NA18552, NA21303, NA07056, NA19146, NA20322, NA19148, NA20907, NA20509, NA12739, NA19394, NA19258, NA20882, NA19701, NA19703, NA21524, NA21423, NA20766, NA20508, NA18862, NA18861, NA18508, NA12273, NA20783, NA18935, NA20816, NA20752, NA17968, NA20873, NA20802, NA18925, NA12340, NA20332, NA18616, NA19443, NA20356, NA21522, NA20771, NA18510, NA12399, NA19107, NA18563, NA17986, NA18519, NA19319, NA18597, NA10846, NA10854, NA19307, NA18923, NA19784, NA19457, NA21108, NA21353, NA21381, NA19904, NA21391, NA19130, NA11930, NA18159, NA20518, NA19123, NA12156, NA19215, NA12044, NA19235, NA19207, NA18748, NA17996, NA19702, NA19128, NA21689, NA20342, NA19708, NA10839, NA21417, NA19027, NA20301, NA21313, NA19908, NA21575, NA19403, NA19194, NA20885, NA19161, NA18933, NA18694, NA18485, NA18871, NA19103, NA20358, NA19208, NA19202, NA11919, NA20866, NA19150, NA12386, NA20581, NA18930, NA19154, NA18857, NA19099, NA18555, NA12144, NA19469, NA18858, NA20872, NA06991, NA19309, NA19390, NA19115, NA19149, NA19147, NA20276, NA12272, NA19835, NA20778, NA20902, NA19311, NA18501, NA06994, NA07435, NA20847, NA21090, NA10843, NA19468, NA19211, NA20852, NA19093, NA20510, NA18509, NA20289, NA19185, NA20786, NA12875, NA20758, NA19116, NA18872, NA19430, NA21363, NA11892, NA19316, NA12890, NA12006, NA18623, NA20277, NA20908, NA20754, NA19346, NA19214, NA19676, NA18997, NA19141, NA19222, NA21097, NA21383, NA21089, NA20877, NA19203, NA21577, NA11829, NA18153, NA19914, NA21519, NA19795, NA18545, NA07029, NA21648, NA19057, NA18596, NA21741, NA18125, NA21693, NA18870, NA12155, NA21784, NA20846, NA19381, NA21405, NA19382, NA21600, NA20850, NA20279, NA19448, NA19119, NA19198, NA20317, NA21355, NA21401, NA18642, NA12283, NA19138, NA21103, NA19782, NA06993, NA21370, NA20910, NA21402, NA11917, NA21611, NA20819, NA06984, NA21454, NA19917, NA19137, NA18112, NA19385, NA20343, NA20811, NA19901, NA21442, NA19445, NA19200, NA21494, NA11993, NA21106, NA19714, NA18614, NA11831, NA19210, NA12343, NA20505, NA19152, NA18515, NA19236, NA20895, NA18516, NA18132, NA20126, NA18503, NA11839, NA21116, NA19179, NA18566, NA21441, NA19114, NA21141, NA21339, NA10830, NA20538, NA12249, NA21678, NA19257, NA19095, NA18634, NA20534, NA19436, NA20765, NA19035, NA21302, NA18608, NA19094, NA06995, NA21424, NA20773, NA19206, NA18909, NA21719, NA18961, NA10859, NA19473, NA19174, NA21425, NA19380, NA19144, NA20785, NA19334, NA19439, NA10840, NA18643, NA20516, NA07037, NA18911, NA19398, NA20302, NA18994, NA18500, NA19096, NA18854, NA20128, NA21490, NA19757, NA18852, NA19755, NA19224, NA18955, NA19139, NA18511, NA10865, NA21333 | | Known Genes | CFHR1, CFHR3 | | Method | SNP array | | Analysis | To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays. | | Platform | Not specified | | Comments | | | Reference | Altshuler_et_al_2010 | | Pubmed ID | 20811451 | | Accession Number(s) | esv2421560
| | Frequency | | Sample Size | 1184 | | Observed Gain | 0 | | Observed Loss | 532 | | Observed Complex | 0 | | Frequency | n/a |
|
|
