A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632687



Internal ID7019498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72133896..72135005hg38UCSC Ensembl
Innerchr13:72133964..72134955hg38UCSC Ensembl
Outerchr13:72133803..72135098hg38UCSC Ensembl
chr13:72708034..72709143hg19UCSC Ensembl
Innerchr13:72708102..72709093hg19UCSC Ensembl
Outerchr13:72707941..72709236hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14791404, essv14791401, essv14791391, essv14791403, essv14791397, essv14791395, essv14791406, essv14791398, essv14791394, essv14791396, essv14791402, essv14791405, essv14791392, essv14791393, essv14791400, essv14791399
SamplesHG03300, NA19020, HG03518, NA18489, NA19119, NA18868, HG01973, HG03114, HG03088, HG02976, HG02332, HG02970, HG02013, NA19900, HG00553, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632687
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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