A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10970257



Internal ID1023573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:31305285..31310183hg38UCSC Ensembl
Innerchr3:31305293..31310175hg38UCSC Ensembl
Outerchr3:31305277..31310191hg38UCSC Ensembl
chr3:31346777..31351675hg19UCSC Ensembl
Innerchr3:31346785..31351667hg19UCSC Ensembl
Outerchr3:31346769..31351683hg19UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg384899
hg194899
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595753
Supporting Variants
SamplesHG00641
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10970257
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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