A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632117



Internal ID7018927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53532819..53541795hg38UCSC Ensembl
Innerchr13:53532826..53541788hg38UCSC Ensembl
Outerchr13:53532812..53541802hg38UCSC Ensembl
chr13:54106954..54115930hg19UCSC Ensembl
Innerchr13:54106961..54115923hg19UCSC Ensembl
Outerchr13:54106947..54115937hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388977
hg198977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14732716, essv14732720, essv14732714, essv14732719, essv14732712, essv14732717, essv14732722, essv14732718, essv14732713, essv14732715, essv14732721
SamplesNA19916, HG02493, HG03343, NA19247, HG02728, HG03476, HG03078, HG02330, HG02923, HG03166, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632117
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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