A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2657438

Internal ID9576857
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70302428..70302751hg38UCSC Ensembl
chr1:70768111..70768434hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6027610, essv5505504, essv5417801, essv5874743, essv6344351, essv5905329, essv5473652, essv5511751, essv6096373, essv6148616, essv6113688, essv6303615, essv5549062, essv5877690, essv6091389, essv5912857, essv6157985, essv6314164, essv6466027, essv5836294, essv6317909, essv6511876, essv5419909, essv5670438, essv6225154, essv6374081, essv6469084, essv5715351, essv5435203, essv5752240, essv6138784, essv6342641, essv6372097, essv6158507, essv6438662, essv5536196, essv5631776, essv5893022, essv5517503, essv5969631, essv5408276, essv6274476, essv6527902, essv6286776, essv6583093, essv5796643, essv5946297, essv5841415, essv5586749, essv5517989, essv5507665, essv5780473, essv5638791, essv5677920, essv5976818, essv6202325, essv6330274, essv6471367, essv6525441, essv6158850, essv5556133, essv5947260, essv5819241, essv6208832, essv6520756, essv6232564, essv5433787, essv6219904, essv6450004, essv6014562, essv6526841, essv6392707, essv6083763, essv6548865, essv6567907, essv6042805, essv6010692, essv6467067, essv6193773, essv5570218, essv5859674, essv6001871, essv5587944, essv5760567, essv6422627, essv5710364, essv6350851, essv5497080, essv5965328, essv5548250, essv5667608, essv6002777, essv5437195, essv5489754, essv5782738, essv5929524, essv6083978, essv6184660, essv5662141, essv5765777, essv6395354, essv5974975, essv6048757, essv6509963, essv6366726, essv6477969, essv5414934, essv5415282, essv5859063, essv5515813, essv5535406, essv6242206, essv6211136, essv5990486, essv6355346, essv6091548, essv5738430, essv6012365, essv6110779, essv6384518, essv6096979, essv6560380, essv5870636, essv6126695, essv6293616, essv5599995, essv5637085, essv5952197, essv6011248, essv6414366, essv6455380, essv5470620, essv5703234, essv5807085, essv6067015, essv6535175, essv5654239, essv6344549, essv6246890, essv6256654, essv5735475, essv5889697, essv6407158, essv6236365, essv6495701, essv5424068, essv5545574, essv5800431, essv6258769, essv5991137, essv5805336, essv6224468, essv5719366, essv5852706, essv5954693, essv5428850, essv6509740, essv6318725, essv6380384, essv5826768, essv5790275, essv5992261, essv6188219, essv6423872, essv6485301, essv6576566, essv5751228, essv6136027, essv5612484, essv5820907, essv5908290, essv5974480, essv6573500, essv5527448, essv5591463, essv5962482, essv6419154, essv5573028, essv5973785, essv6219073, essv6246217, essv6437931, essv6063932, essv5552823, essv5839514, essv6591958, essv6474488, essv5877268, essv5487500, essv5740397, essv5789019, essv6121005, essv5551324, essv6567869, essv5681390, essv6479975, essv6509183, essv6106846, essv6220446, essv6004795, essv6487132, essv6535576, essv5483778, essv6513988, essv5981189, essv5789211, essv6331204, essv5816763, essv6022557, essv6373481, essv6491590, essv6026158, essv6105696, essv6189729, essv6253844, essv6330216, essv5405266, essv5764983, essv6015363, essv6556864, essv5770997, essv6025752, essv6112685, essv5634260, essv6229809, essv5706811, essv5747854, essv6569349, essv6349056, essv6513697, essv6135520, essv6295341, essv5952030, essv6162427, essv5541075, essv6390610, essv6298272, essv6559690, essv5778437, essv6409589, essv6418840, essv6185840, essv5838252, essv6283423, essv5957735, essv5638587, essv5676960, essv6029806, essv6057778, essv5627082, essv6458496, essv5793486, essv5684587, essv6433030, essv5814691, essv5877134, essv6217412, essv5445465, essv5458987, essv6141329, essv6469639, essv5441453, essv6285489, essv6483921, essv6562132, essv6275660, essv6489647, essv5788656, essv5950494, essv6329253, essv6030148, essv5626808, essv5448758, essv6122597, essv6594863, essv5774169, essv5938243, essv5852770, essv6489275, essv6556604, essv6333165, essv5951697, essv5775883, essv6207306, essv6455795
SamplesNA19012, NA18621, NA19207, NA12154, NA18605, NA07347, NA18520, NA18595, NA18616, HG00182, NA19904, NA18951, NA20527, HG00619, NA18534, NA18530, NA18871, HG00418, NA12286, NA19081, HG00328, NA18523, NA11920, NA18612, NA19209, HG00245, NA18501, NA19401, HG00736, NA19311, HG00160, HG00449, NA11918, NA19060, HG00310, NA18550, NA18570, NA19072, NA18511, NA19455, HG01098, NA18603, NA19430, HG00463, HG00657, NA18516, NA12813, HG01492, NA18953, NA18972, NA18517, NA20529, HG00475, NA18947, NA20778, NA18489, NA19144, NA19210, NA19379, HG00701, NA12058, NA18507, HG00683, HG00698, NA19834, HG01188, HG00334, HG00581, NA18963, HG00404, HG00651, HG01168, NA19257, HG00578, NA19108, HG00331, NA18965, HG00253, NA18505, NA18950, NA19776, HG00479, HG00269, HG00256, NA19077, HG00115, HG00543, NA18559, NA19062, HG00321, NA19726, NA20761, NA19428, NA20505, HG01384, NA18967, NA19239, HG01456, HG00472, HG01375, HG00421, HG00583, NA18566, NA18635, NA19057, NA18536, NA19675, NA18576, NA18622, HG00259, NA18563, NA19471, HG00610, HG01061, NA18990, HG00692, NA19396, NA18592, NA18856, HG00330, NA07048, NA18956, NA19066, NA18959, NA18609, NA20765, HG00419, HG00125, NA18976, NA11894, NA18637, NA11995, NA18916, HG00637, NA19056, NA19663, HG01187, NA12830, NA18634, HG00584, NA19684, HG00133, HG00662, NA18539, NA12751, NA19190, HG01497, NA19000, NA19055, NA19213, NA19725, HG00620, HG01111, NA19153, NA18620, NA19172, NA19189, NA12892, NA18633, HG00653, HG01191, NA18572, NA20348, HG00732, NA19384, HG00629, NA19716, HG00185, NA18486, NA18968, NA19238, HG01455, NA19005, NA18502, NA19119, HG00560, NA19002, NA19098, HG00501, HG00672, NA19901, HG01170, HG01069, NA18942, NA18961, HG00740, HG00513, NA19720, NA18988, HG00512, HG00534, HG01070, HG00246, NA18562, NA19074, NA19131, NA19159, NA19711, NA18974, NA18985, NA19789, HG00236, HG00589, HG01149, NA18543, NA18940, NA18619, NA10851, NA12890, HG00595, NA18552, NA18983, HG00443, NA18599, NA18567, NA19391, NA19723, NA19201, NA12749, NA19403, NA19009, NA20518, HG00663, NA19116, NA18560, NA18989, NA18544, NA18971, NA19434, NA18577, NA19099, NA12878, NA18614, NA11830, NA18944, NA19399, NA12546, NA19160, NA19655, HG01366, HG00422, HG00708, HG01108, NA12045, NA18611, HG00566, NA19171, NA19240, NA19346, NA18532, NA18574, NA19204, NA18981, NA19350, HG00137, NA19079, NA20804, NA06994, HG00671, NA19087, NA20517, NA19092, NA18555, NA19200, HG00271, NA20519, NA19065, NA12775, NA18980, NA18553, NA19137, NA18964, NA12718, NA19152, NA19445, HG01359, HG01518, NA12249, NA18861, HG00318, HG00607, NA20503, HG01052, NA18952, NA18975
Known GenesANKRD13C
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2657438
Sample Size1151
Observed Gain0
Observed Loss285
Observed Complex0

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