A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632824



Internal ID7019635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79880777..79886024hg38UCSC Ensembl
Innerchr13:79880777..79886024hg38UCSC Ensembl
Outerchr13:79880359..79886267hg38UCSC Ensembl
chr13:80454912..80460159hg19UCSC Ensembl
Innerchr13:80454912..80460159hg19UCSC Ensembl
Outerchr13:80454494..80460402hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14814283, essv14814284, essv14814287, essv14814285, essv14814286
SamplesNA12004, HG00173, HG00273, HG00308, HG00269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632824
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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