A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672053

Internal ID9591472
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27495209..27502230hg38UCSC Ensembl
chr12:27648142..27655163hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6398699, essv6408577, essv5561531, essv6057264, essv6551495, essv5992853, essv6393845, essv6106450, essv5575316, essv6000110, essv6462798, essv5726902, essv5654934, essv6039833, essv5983019, essv6489516, essv5524285, essv6162468, essv6042783, essv6590070, essv5962058, essv5527356, essv6434936, essv6420743, essv6148353, essv6388283, essv6337846, essv5937987, essv6330330, essv6453754, essv6078601, essv5442754, essv5611118, essv5524103, essv6384090, essv6595044, essv6179146, essv6214100, essv6366235, essv6588107, essv5752154, essv6328416, essv6396855, essv5561978, essv6131287, essv5546588, essv6574326, essv6349123, essv6166924, essv5769753, essv5817308, essv5955318, essv5507212
SamplesNA12154, NA19712, NA20514, NA20522, NA20526, NA19819, HG00551, NA18933, NA18874, HG00131, NA18516, NA18517, NA19920, NA20778, NA19651, NA19257, NA19108, NA19701, NA20340, NA20761, NA19239, NA20819, NA12004, NA19917, HG01047, NA19256, NA18916, NA12777, NA19676, NA19360, NA19313, NA19703, NA19375, NA18986, HG01069, NA20766, NA19789, NA12889, HG00262, NA20287, NA19446, HG01390, NA20513, NA12003, NA20810, NA19225, NA19160, NA20792, NA11829, NA19240, HG01374, NA19092, NA19468
Known GenesSMCO2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2672053
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0

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