A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597496



Internal ID6984637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116619882..116627320hg38UCSC Ensembl
Innerchr3:116619892..116627310hg38UCSC Ensembl
Outerchr3:116619872..116627330hg38UCSC Ensembl
chr3:116338729..116346167hg19UCSC Ensembl
Innerchr3:116338739..116346157hg19UCSC Ensembl
Outerchr3:116338719..116346177hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg387439
hg197439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11112301, essv11112300
SamplesHG01777, HG01272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597496
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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