A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632341



Internal ID7019150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61625026..61631782hg38UCSC Ensembl
Innerchr13:61625057..61631752hg38UCSC Ensembl
Outerchr13:61624996..61631813hg38UCSC Ensembl
chr13:62199159..62205915hg19UCSC Ensembl
Innerchr13:62199190..62205885hg19UCSC Ensembl
Outerchr13:62199129..62205946hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg386757
hg196757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv339e214
Supporting Variantsessv14766323, essv14766328, essv14766326, essv14766325, essv14766322, essv14766329, essv14766324, essv14766327
SamplesHG00766, HG00306, HG02215, HG01668, HG01162, HG03631, HG01697, HG03955
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632341
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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