A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14791340



Internal ID3868007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71948480..71951015hg38UCSC Ensembl
Innerchr13:71948480..71951015hg38UCSC Ensembl
Outerchr13:71948315..71951213hg38UCSC Ensembl
chr13:72522618..72525153hg19UCSC Ensembl
Innerchr13:72522618..72525153hg19UCSC Ensembl
Outerchr13:72522453..72525351hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382536
hg192536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632684
Supporting Variants
SamplesHG03514
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14791340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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