A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993176



Internal ID1569682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43817504..43822844hg38UCSC Ensembl
Innerchr3:43817504..43822844hg38UCSC Ensembl
Outerchr3:43817284..43823058hg38UCSC Ensembl
chr3:43858996..43864336hg19UCSC Ensembl
Innerchr3:43858996..43864336hg19UCSC Ensembl
Outerchr3:43858776..43864550hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg385341
hg195341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596024
Supporting Variants
SamplesHG01455
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993176
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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