A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671996



Internal ID9591415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46634793..46639525hg38UCSC Ensembl
chr12:47028576..47033308hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384733
hg194733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6196748, essv6264427, essv6369355, essv6002593, essv5758864, essv5537087, essv5498034, essv5894560, essv5774237, essv5587672, essv6303331, essv6339181, essv6126053, essv6392953, essv6379613, essv5683671, essv5963047, essv6210600, essv6380905, essv6250319, essv5923263, essv5672738, essv6139403, essv5991703, essv6317894, essv5511092, essv5593111, essv6106194, essv5634306, essv6583544, essv5801239, essv5480537, essv5463832, essv5636333, essv6238868, essv5442047, essv6408165, essv5649165, essv6456016, essv6505692, essv6322119, essv6021094, essv5439242, essv6163600, essv6341099, essv6395124, essv5518579, essv6396030, essv5944704, essv6478558, essv6338475, essv5626054, essv6118028, essv5754759, essv6349934, essv6305967, essv5852650, essv5758131, essv5961566, essv5425415, essv6000793, essv6111961, essv6416529, essv6471283, essv6336539, essv5741485, essv6171929, essv5596224, essv5459062, essv5510429, essv6555268, essv5627333
SamplesHG00650, HG00608, HG00671, HG00559, HG00699, NA18530, NA18606, NA18602, NA18627, NA19107, HG00589, HG00702, HG00689, HG00610, NA18574, HG00537, NA18611, HG00534, NA19471, NA18986, NA18557, NA18985, HG00419, HG00543, HG00443, HG00596, NA19347, HG00577, HG00657, HG00436, HG00533, HG00500, NA18630, HG00619, HG00708, HG00692, HG00635, NA19000, HG00690, HG00531, NA18553, NA18536, NA18632, NA19440, NA19834, NA18628, HG00638, NA19334, HG00473, HG00607, NA19470, NA19311, HG00662, HG00620, NA19078, HG00614, HG00513, HG00578, NA18631, NA19472, HG00421, HG00656, HG00698, HG00595, HG00472, NA19463, NA19063, HG00437, NA18562, HG00581, NA18620, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671996
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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