A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2664453

Internal ID9583872
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32254128..32254234hg38UCSC Ensembl
Outerchr12:32254091..32254284hg38UCSC Ensembl
Innerchr12:32407062..32407168hg19UCSC Ensembl
Outerchr12:32407025..32407218hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6215699, essv5422896, essv5725208, essv5668377, essv6029593, essv5943847, essv5676974, essv5775108, essv6531989, essv5439739, essv6584181, essv5439706, essv6065170, essv6475637, essv6091130, essv5489058, essv5607793, essv5441586, essv5729395, essv6074284, essv6169583, essv6316335, essv6226529, essv6295105, essv5421440, essv5487050, essv6164292, essv6266961, essv5800155, essv6310566, essv6184982, essv5556290, essv5936952, essv5878088, essv5415042, essv5769131, essv5672251, essv5857857, essv5529264, essv6205073, essv5402994, essv5952523, essv6552877, essv5883091, essv6234678, essv6594469, essv5710100, essv5581292, essv6282164, essv5887841, essv5971881, essv5557809, essv6470062, essv5541487, essv5932107
SamplesHG00323, NA18621, HG00309, HG00537, HG00536, NA18534, HG01353, HG00705, HG00437, HG00500, HG00464, HG00463, HG00614, HG00428, HG01350, HG00698, HG00334, HG00651, HG00557, HG00331, HG00353, HG00479, NA18632, HG00421, HG00140, NA18623, HG00330, NA18638, HG00419, NA18637, HG00662, HG00620, HG01437, HG00653, HG01066, HG00501, HG00273, HG00478, HG00524, HG00512, HG00589, HG00427, NA18597, HG00590, HG00443, NA18599, HG01334, HG00654, HG00422, HG00708, HG00693, NA18611, HG00275, HG00702, HG01067
Known GenesBICD1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2664453
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0

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