A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2669713

Internal ID9589132
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23836982..23838788hg38UCSC Ensembl
Outerchr12:23836611..23839158hg38UCSC Ensembl
Innerchr12:23989916..23991722hg19UCSC Ensembl
Outerchr12:23989545..23992092hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5495014, essv6096530, essv5596601, essv5449347, essv5890303, essv5836496, essv6579684, essv6582745, essv5485957, essv6342169, essv6187247, essv6060940, essv5631161, essv6345688, essv5484290, essv6378649, essv6578793, essv6207673, essv5792139, essv6454453, essv5741021, essv5510942, essv5472084, essv5871312, essv6052947, essv6523403, essv6429183, essv5530815, essv6070520, essv6289423, essv6187054, essv6339683, essv5842753, essv6040413, essv5410117, essv5469946, essv6188257, essv6438135, essv6354293, essv5615093, essv5701476, essv6479048, essv5660983, essv5614766, essv5863219, essv6508679, essv6343354, essv6263023, essv5481255, essv6336864, essv5873174, essv6142683, essv6464984, essv5829825, essv6295872, essv6258034, essv6397217, essv6134121, essv6052038, essv5728937, essv6173423, essv5508742, essv5988931, essv6270663, essv6039116, essv5825921, essv5820705, essv6158402, essv5915351, essv6259221, essv5427154, essv6131737, essv5719376, essv6370427, essv5402898, essv5795869, essv6031558, essv5967555, essv5738263, essv5821240, essv6131552, essv5916793, essv5642958, essv5474355, essv5743978, essv5504446, essv6261338, essv6463301, essv6257372, essv5732058
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00437, HG00500, HG00464, HG00596, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00577, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00592, HG00635, HG00543, HG00556, HG00593, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00560, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesSOX5
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2669713
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0

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