A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597499



Internal ID6637769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116789478..116999700hg38UCSC Ensembl
Innerchr3:116789500..116999678hg38UCSC Ensembl
Outerchr3:116789456..116999722hg38UCSC Ensembl
chr3:116508325..116718547hg19UCSC Ensembl
Innerchr3:116508347..116718525hg19UCSC Ensembl
Outerchr3:116508303..116718569hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38210223
hg19210223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11112308, essv11112307
SamplesHG00557, HG01619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597499
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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