A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657438



Internal ID9576857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70302428..70302751hg38UCSC Ensembl
chr1:70768111..70768434hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6067015, essv6466027, essv6011248, essv5874743, essv5637085, essv5612484, essv6106846, essv5969631, essv5684587, essv5751228, essv5770997, essv5677920, essv6001871, essv6350851, essv6112685, essv5859063, essv6283423, essv6384518, essv5638791, essv6012365, essv5489754, essv5870636, essv6567907, essv6567869, essv6253844, essv5437195, essv6414366, essv5710364, essv6275660, essv6487132, essv6559690, essv6366726, essv6217412, essv6535576, essv6083978, essv5974480, essv5765777, essv6573500, essv5805336, essv5527448, essv6157985, essv5414934, essv6329253, essv6395354, essv6569349, essv5549062, essv6471367, essv6380384, essv6318725, essv6002777, essv5877268, essv5793486, essv6467067, essv6242206, essv6422627, essv5435203, essv6483921, essv5764983, essv6349056, essv5487500, essv6355346, essv5774169, essv5826768, essv6136027, essv6433030, essv6485301, essv6525441, essv5814691, essv5662141, essv5703234, essv6344549, essv6141329, essv6193773, essv5782738, essv6491590, essv5405266, essv5715351, essv6229809, essv6148616, essv6450004, essv6158507, essv5912857, essv6372097, essv6392707, essv6489275, essv5408276, essv6469639, essv5441453, essv5556133, essv5752240, essv6556604, essv6015363, essv5631776, essv5738430, essv5548250, essv5981189, essv6583093, essv6437931, essv5747854, essv5889697, essv6374081, essv5816763, essv5819241, essv5760567, essv5470620, essv5586749, essv6224468, essv6184660, essv6509963, essv6121005, essv6513988, essv6232564, essv5877690, essv6110779, essv6455380, essv5947260, essv5445465, essv6105696, essv5789019, essv5591463, essv6293616, essv5517989, essv6458496, essv5950494, essv5517503, essv6030148, essv6423872, essv5735475, essv6495701, essv6246890, essv5670438, essv5545574, essv6057778, essv6373481, essv6314164, essv6331204, essv6344351, essv6560380, essv6185840, essv6025752, essv6010692, essv5836294, essv6330274, essv5952030, essv6455795, essv6477969, essv5976818, essv5839514, essv6208832, essv5877134, essv5946297, essv6063932, essv6256654, essv5796643, essv5627082, essv6548865, essv6556864, essv6091548, essv5859674, essv5952197, essv5719366, essv5852770, essv6189729, essv6029806, essv6225154, essv5483778, essv5789211, essv6126695, essv6469084, essv5541075, essv6026158, essv5905329, essv6083763, essv6509740, essv5634260, essv5676960, essv6562132, essv5929524, essv6096979, essv5626808, essv5908290, essv6489647, essv6236365, essv5667608, essv5991137, essv5552823, essv5428850, essv6113688, essv6022557, essv5893022, essv5505504, essv6513697, essv5778437, essv6219073, essv6220446, essv6527902, essv5954693, essv5419909, essv5417801, essv5599995, essv5551324, essv6407158, essv6390610, essv5424068, essv5515813, essv6479975, essv6162427, essv6211136, essv5938243, essv5790275, essv6509183, essv6138784, essv5965328, essv6535175, essv6333165, essv5570218, essv5638587, essv6526841, essv5807085, essv5800431, essv6298272, essv5974975, essv5951697, essv5587944, essv6246217, essv6122597, essv6330216, essv5820907, essv5573028, essv6409589, essv6188219, essv6158850, essv5838252, essv5654239, essv6274476, essv6014562, essv6096373, essv5433787, essv5780473, essv6207306, essv6418840, essv6027610, essv5740397, essv5511751, essv5681390, essv6303615, essv5507665, essv6520756, essv5973785, essv5957735, essv6474488, essv6591958, essv6438662, essv6202325, essv5788656, essv5536196, essv6419154, essv6091389, essv5841415, essv6042805, essv5473652, essv6004795, essv5962482, essv6594863, essv5497080, essv5535406, essv5458987, essv6219904, essv5775883, essv6286776, essv6285489, essv5706811, essv6048757, essv6342641, essv5852706, essv5990486, essv6295341, essv6511876, essv5415282, essv6258769, essv6135520, essv5992261, essv6317909, essv5448758, essv6576566
SamplesNA18502, NA20761, NA20529, NA18621, NA18947, NA12286, HG00671, NA19066, NA19204, NA18861, NA10851, NA19399, NA11920, NA19350, NA12751, NA19684, NA18530, NA18959, HG00115, NA18616, HG01518, HG00449, NA20517, NA18633, NA18988, HG00271, NA12813, HG00663, NA18563, NA19171, NA19379, NA18940, HG00589, HG01168, NA18567, HG01492, NA19062, NA18916, NA18574, NA07048, NA11918, NA07347, HG00334, HG00185, NA19904, NA19384, NA19079, HG00512, HG01069, NA19720, NA20518, NA19238, HG00534, NA19207, NA19172, HG00160, NA18990, NA19239, NA18985, HG00253, NA19789, NA18539, HG00137, NA18951, NA18605, HG00443, NA19056, NA19403, HG00245, NA12878, HG00732, HG00657, NA19455, NA19663, HG00583, NA19081, NA12718, NA20519, NA18871, NA18572, HG01149, NA18534, NA18981, HG00692, HG00740, HG00651, HG00404, HG00479, HG00331, NA18532, NA18553, HG01497, NA19099, NA19009, NA18555, NA18963, NA18523, HG00463, HG00246, NA18570, NA12546, NA19012, NA18974, NA18953, NA18517, NA19434, NA19072, NA20527, HG01375, NA20778, NA19428, NA19311, HG00662, HG00418, HG00620, NA18501, NA06994, HG00513, HG00259, NA19716, NA18609, HG00310, NA19116, NA19711, NA18983, NA20503, HG00595, NA19430, NA18989, HG01111, NA18968, NA12890, NA12154, NA19065, NA18612, NA19346, NA19074, HG00581, NA18577, NA18620, NA11830, HG01098, NA19055, NA11995, NA18592, HG01359, HG01052, NA18980, NA18507, HG01188, NA18599, NA18603, NA12045, HG00318, NA19092, NA18486, NA19057, HG01456, HG00566, NA12058, NA19190, NA19098, NA18967, NA19396, NA19005, NA18944, NA18550, HG01366, HG01070, NA19201, HG00501, NA18489, NA18595, NA19723, NA19119, NA18635, NA18619, HG00330, NA19131, NA18942, HG00736, HG00610, NA18964, NA18611, HG01455, HG00683, HG01170, HG00236, NA19137, NA18560, HG00422, NA19471, NA19087, NA19159, HG00182, NA19002, NA19901, NA19725, NA19189, NA18520, HG00637, NA19209, NA19445, NA18975, HG00419, NA19200, NA18614, HG00543, HG00133, NA18544, HG00560, NA19210, HG00629, HG01187, HG01384, HG00328, NA20505, NA19077, NA19152, HG00653, NA18956, HG00701, NA19391, HG00475, NA18516, HG00584, NA18637, NA18976, HG00619, NA19776, HG00708, NA18566, NA19000, NA19655, NA11894, NA18856, NA12249, NA12892, HG00321, NA19257, NA19160, NA18536, NA18634, NA19675, NA18576, NA20765, NA19401, NA19834, NA19108, NA18961, NA18952, NA18543, NA18559, NA12775, NA18950, NA20804, NA19240, NA19144, HG00607, HG01108, HG00256, HG00269, HG00125, HG00672, NA20348, HG00578, NA18971, NA19060, HG00421, NA12749, NA12830, HG00698, NA19726, NA19213, NA18972, NA18552, HG00472, NA18505, NA18511, HG01191, NA18622, HG01061, NA19153, NA18562, NA18965
Known GenesANKRD13C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657438
Frequency
Sample Size1151
Observed Gain0
Observed Loss285
Observed Complex0
Frequencyn/a


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