A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597430



Internal ID6972276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113044940..113047281hg38UCSC Ensembl
Innerchr3:113044940..113047281hg38UCSC Ensembl
Outerchr3:113044737..113047467hg38UCSC Ensembl
chr3:112763787..112766128hg19UCSC Ensembl
Innerchr3:112763787..112766128hg19UCSC Ensembl
Outerchr3:112763584..112766314hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11105631
SamplesHG01149
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597430
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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