A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2671996

Internal ID9591415
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46634793..46639525hg38UCSC Ensembl
chr12:47028576..47033308hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5852650, essv5459062, essv6196748, essv6583544, essv5518579, essv6305967, essv6238868, essv6339181, essv5894560, essv5758131, essv5511092, essv5683671, essv6456016, essv6000793, essv5649165, essv5672738, essv6317894, essv6250319, essv6471283, essv5510429, essv5593111, essv6349934, essv5754759, essv6379613, essv6264427, essv5626054, essv5944704, essv6380905, essv5741485, essv6336539, essv6392953, essv6369355, essv6303331, essv5774237, essv6416529, essv6408165, essv5923263, essv6139403, essv5758864, essv6341099, essv5991703, essv5537087, essv5636333, essv5634306, essv6171929, essv5498034, essv6210600, essv5961566, essv6002593, essv6338475, essv6555268, essv5439242, essv5442047, essv6395124, essv6163600, essv5596224, essv6021094, essv5627333, essv5963047, essv6126053, essv6505692, essv6106194, essv5425415, essv6478558, essv6322119, essv5463832, essv6396030, essv6118028, essv5801239, essv6111961, essv5587672, essv5480537
SamplesHG00537, HG00607, HG00619, NA18530, NA18630, HG00437, HG00500, HG00596, NA19311, HG00657, HG00614, NA19334, HG00577, HG00698, NA19834, HG00581, HG00578, HG00699, NA18557, NA19472, NA18628, NA18632, HG00635, HG00543, NA19463, NA18627, HG00593, HG00472, HG00421, NA18536, HG00638, NA19471, NA19107, HG00610, HG00692, HG00689, NA19440, HG00533, HG00419, HG00662, NA19000, HG00436, HG00620, NA18620, NA18986, HG00559, NA19347, HG00513, HG00534, NA18562, NA18985, HG00589, NA18606, HG00595, HG00443, NA19078, HG00650, NA18631, NA18602, HG00608, NA19063, HG00656, HG00708, NA19470, NA18611, HG00690, NA18574, HG00473, HG00671, HG00702, HG00531, NA18553
Known Genes
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2671996
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer