A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11021778



Internal ID6794882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58440279..58443070hg38UCSC Ensembl
Innerchr3:58440285..58443065hg38UCSC Ensembl
Outerchr3:58440274..58443076hg38UCSC Ensembl
chr3:58426006..58428797hg19UCSC Ensembl
Innerchr3:58426012..58428792hg19UCSC Ensembl
Outerchr3:58426001..58428803hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382792
hg192792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596249
Supporting Variants
SamplesNA20887
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11021778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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