A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2669119

Internal ID9588538
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49908358..49908782hg38UCSC Ensembl
chr22:50302006..50302430hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042324, essv5537051, essv6301362, essv5602248, essv5734405, essv6118758, essv5993003, essv5873716, essv5930389, essv6593612, essv5944476, essv6196266, essv6042316, essv6289505, essv6453317, essv6175998, essv5537169, essv5928532, essv5480219, essv5762033, essv6361734, essv5469824, essv5426420, essv6362131, essv5574590, essv6060135, essv5829111, essv5867945, essv6401991, essv5669890, essv5985188, essv6170221, essv6400638, essv5896702, essv5644154, essv6537402, essv5538039, essv6406007, essv5591798, essv6433277, essv5553808, essv5826037, essv6593884, essv5968075, essv5982773, essv6457900, essv6238298, essv6166858, essv6540087, essv6366957, essv5811952, essv6474112, essv6007455, essv6136575, essv5999932, essv5773897, essv6141796, essv5466405, essv5740654, essv6079478, essv5563491, essv5398248, essv5597740, essv6585003, essv5551233, essv5801790, essv5660122, essv6191729, essv6375556, essv5921958, essv6378491, essv6464234, essv5513776, essv6328888, essv5781524, essv6290466, essv5911316, essv6009524, essv5998747, essv5535889, essv5803893, essv5965970
SamplesNA19312, NA12154, HG00537, NA19436, NA20809, NA18535, HG00418, NA18874, NA18612, NA19093, NA19401, NA20796, NA20535, HG00707, NA19223, NA19435, NA19317, NA19334, NA19451, HG00148, NA19920, NA12058, NA07051, HG00366, NA19701, NA19355, NA20322, NA19472, NA19467, NA20521, NA18873, HG00154, NA19914, NA19067, NA19428, NA19383, NA19057, NA19675, HG00140, NA19443, NA18990, NA19396, NA19397, NA19398, HG00533, HG00419, NA11894, NA19835, HG00403, HG00133, NA19055, NA19360, NA19377, NA19380, NA19395, NA19372, NA19375, HG00732, NA19657, NA19704, NA18487, NA19347, NA18613, NA19707, NA19318, NA19462, NA18543, HG00427, NA19376, HG00611, NA18538, NA19403, HG00118, NA19818, NA19452, NA12546, HG00422, NA19470, HG00442, NA19350, NA19381, NA19385
Known GenesALG12
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2669119
Sample Size1151
Observed Gain0
Observed Loss82
Observed Complex0

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