A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10989475



Internal ID3021102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40643999..40653886hg38UCSC Ensembl
Innerchr3:40644149..40653736hg38UCSC Ensembl
Outerchr3:40643849..40654036hg38UCSC Ensembl
chr3:40685490..40695377hg19UCSC Ensembl
Innerchr3:40685640..40695227hg19UCSC Ensembl
Outerchr3:40685340..40695527hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg389888
hg199888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595954
Supporting Variants
SamplesHG02658
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10989475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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