A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666182



Internal ID9585601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83774899..83775477hg38UCSC Ensembl
chr16:83808504..83809082hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv511e199
Supporting Variantsessv5987731, essv5705476, essv5476467, essv5498222, essv6053673, essv6535876, essv6504938, essv6075981, essv5879721, essv5987887, essv5944409, essv5508893, essv5999280, essv6372564, essv5558136, essv6164306, essv5640137, essv6191138, essv5691177, essv5953257, essv5814903, essv6218731, essv5437744, essv6020823, essv6568271, essv6570703, essv5437738, essv6532446, essv5821406, essv5521799, essv5546162, essv6111309, essv5584103
SamplesNA19012, NA18951, NA18530, HG00464, HG00736, HG00463, HG01188, HG00651, NA18624, NA18576, HG00692, NA19725, HG00653, NA18572, NA19716, HG00559, NA19005, HG00560, HG01069, HG00513, NA19720, NA19074, NA18606, HG01137, NA18599, NA19078, NA18614, NA18944, NA19717, HG01108, NA18610, NA18532, NA19007
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666182
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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