A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631842



Internal ID7018651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40041202..40041915hg38UCSC Ensembl
Innerchr13:40041252..40041865hg38UCSC Ensembl
Outerchr13:40041152..40041965hg38UCSC Ensembl
chr13:40615339..40616052hg19UCSC Ensembl
Innerchr13:40615389..40616002hg19UCSC Ensembl
Outerchr13:40615289..40616102hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14702984, essv14702983
SamplesNA19000, HG01872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631842
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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