A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678219



Internal ID9597638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96351365..96362433hg38UCSC Ensembl
Outerchr13:96351328..96362483hg38UCSC Ensembl
Innerchr13:97003619..97014687hg19UCSC Ensembl
Outerchr13:97003582..97014737hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3811156
hg1911156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5795576
SamplesNA19717
Known GenesHS6ST3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678219
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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