A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758162



Internal ID9633621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85493249..86042824hg38UCSC Ensembl
Innerchr8:86405478..87055053hg19UCSC Ensembl
Innerchr8:86592730..87124169hg18UCSC Ensembl
Innerchr8:86592730..87124169hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38549576
hg19649576
hg18531440
hg17531440
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759624
Supporting Variantsessv1117, essv10541, essv7129, essv10687, essv17652, essv9161, essv18141, essv4651, essv2843, essv19595, essv19492, essv5233, essv18442, essv16031, essv3790, essv17049, essv24601, essv22368, essv2662, essv24379, essv20797, essv20655, essv11417, essv16482, essv24907, essv8318, essv3348, essv22584, essv19662, essv9465, essv917, essv11637, essv6295, essv12391, essv3298, essv21207, essv14748, essv8872, essv5214, essv17494, essv2011, essv13044, essv11194, essv24704, essv6695, essv21050, essv15790, essv13556, essv4496, essv1366, essv5349, essv11964, essv17800, essv23376, essv14618, essv3010, essv10305, essv14860, essv11798, essv8479, essv21538, essv23986, essv666, essv21263, essv15466, essv15708, essv18846, essv17240, essv9060, essv23793, essv23042, essv21341, essv4020, essv13468, essv16650, essv21129, essv10990, essv9331, essv4164, essv23522, essv477, essv3144, essv23864, essv11237, essv9733, essv5570, essv14981, essv8926, essv14410, essv17335, essv15203, essv10059, essv23490, essv5939, essv17423, essv6566, essv280, essv10160, essv13909, essv11894, essv19192, essv9259, essv22749, essv9596, essv17639, essv13665, essv7725, essv4806, essv23573, essv1279, essv787, essv15120, essv4420, essv14427, essv16765, essv8192, essv1724, essv221, essv24969, essv15820, essv20437, essv20337, essv13740, essv6942, essv4599, essv9891, essv3190, essv13031, essv570, essv24058, essv23669, essv7605, essv22990, essv1859, essv12467, essv19947, essv3457, essv10874, essv2197, essv14479, essv147, essv23417, essv17111, essv21808, essv22234, essv22646, essv2531, essv20113, essv16843, essv5732, essv2816, essv15378, essv10484, essv18228, essv20561, essv4853, essv24502, essv7742, essv24749, essv6231, essv18604, essv12562, essv4679, essv11911, essv12619, essv3522, essv3156, essv24252, essv21395, essv20083, essv8740, essv7840, essv13606, essv1425, essv14302, essv1206, essv8610, essv22309, essv1518, essv18996, essv16253, essv8093, essv1028, essv5478, essv12735, essv1630, essv18363, essv13144, essv2481, essv16148, essv9793, essv12282, essv1935, essv15592, essv12329, essv11776, essv10360, essv10208, essv2231, essv12855, essv20929, essv22500, essv10953, essv22071, essv10778, essv14201, essv23891, essv23210, essv4268, essv321, essv6384, essv23264, essv5170, essv21413, essv19412, essv7299, essv22855, essv19770, essv16399, essv17954, essv17015, essv15366, essv8388, essv22165
SamplesNA18998, NA18502, NA19141, NA12717, NA19222, NA11830, NA19203, NA18621, NA11829, NA19204, NA18862, NA18592, NA18508, NA12814, NA18524, NA18980, NA18855, NA12236, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA07029, NA12801, NA18504, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA18633, NA12750, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18944, NA18550, NA12812, NA19201, NA10835, NA18995, NA10854, NA12802, NA19119, NA18860, NA18558, NA19131, NA18960, NA18942, NA11992, NA07048, NA18582, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12005, NA18970, NA07019, NA12156, NA19137, NA19238, NA12044, NA19207, NA19172, NA19128, NA18966, NA12815, NA19159, NA10855, NA19239, NA19209, NA10839, NA18975, NA19200, NA11993, NA19007, NA11831, NA18951, NA19210, NA12760, NA12752, NA19120, NA07022, NA19194, NA12753, NA12003, NA10863, NA10831, NA19152, NA12878, NA19161, NA18956, NA18859, NA18515, NA19205, NA18529, NA18516, NA18871, NA19103, NA18572, NA18976, NA18948, NA18503, NA11839, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18573, NA19142, NA19000, NA11840, NA10830, NA18856, NA12249, NA18912, NA12892, NA19154, NA18857, NA18853, NA12264, NA19099, NA12707, NA19101, NA18555, NA07345, NA06985, NA18523, NA19160, NA19132, NA10856, NA18858, NA18593, NA18945, NA19012, NA18974, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18632, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA18952, NA18517, NA12864, NA18863, NA18540, NA18564, NA12057, NA10859, NA19140, NA18913, NA19240, NA19100, NA12873, NA19144, NA18992, NA18943, NA07348, NA12763, NA18594, NA19143, NA18501, NA12740, NA06994, NA18971, NA19223, NA18987, NA19211, NA19093, NA10860, NA18636, NA18521, NA18500, NA18609, NA18506, NA19102, NA12875, NA18854, NA19116, NA18972, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA18522, NA12154, NA07034, NA18622, NA19153, NA18965, NA18620, NA18997
Known GenesREXO1L1, REXO1L2P
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758162
Frequency
Sample Size270
Observed Gain222
Observed Loss2
Observed Complex0
Frequencyn/a


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