A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677337



Internal ID9943442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122363277..122363874hg38UCSC Ensembl
chr3:122082124..122082721hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6536594, essv6090208, essv5587188, essv5511350, essv6153218, essv6183410, essv5663641, essv5397690, essv6477857, essv5407181, essv5893052, essv5797068, essv6368016, essv6135375, essv6087357
SamplesNA18508, NA19914, NA19107, NA19374, NA19396, NA19373, HG00158, NA18874, NA19901, NA18867, NA19908, HG01190, NA19439, NA19818, NA19398
Known GenesCCDC58
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677337
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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