A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632132



Internal ID7018942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54211889..54247881hg38UCSC Ensembl
Innerchr13:54211938..54247832hg38UCSC Ensembl
Outerchr13:54211840..54247930hg38UCSC Ensembl
chr13:54786024..54822016hg19UCSC Ensembl
Innerchr13:54786073..54821967hg19UCSC Ensembl
Outerchr13:54785975..54822065hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3835993
hg1935993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14734109, essv14734110
SamplesNA19197, NA18856
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632132
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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