A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664504



Internal ID9583923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30450979..30456985hg38UCSC Ensembl
Outerchr13:30450608..30457355hg38UCSC Ensembl
Innerchr13:31025116..31031122hg19UCSC Ensembl
Outerchr13:31024745..31031492hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386748
hg196748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6369363, essv5710672, essv6155425, essv5507549, essv6126175, essv5865919, essv6287697, essv6500859, essv5639231, essv6428802, essv6171053, essv6488628, essv5612689, essv6016185, essv6127567, essv5970613, essv5432462, essv5607075, essv5463396, essv5739413, essv5965947, essv5979214, essv5553377, essv5726265, essv5561619, essv5534577, essv5466161, essv5434520, essv6195226, essv5901087
SamplesHG00542, HG00442, HG00536, HG00608, HG00699, HG00589, HG00702, HG00512, HG00705, HG00427, HG00530, HG00543, HG00557, HG00428, HG00701, HG00436, HG00556, HG00500, HG00651, HG00690, HG00479, HG00463, HG00476, HG00580, HG00607, HG00707, HG00614, HG00421, HG00656, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664504
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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