A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151998



Internal ID1153814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131741499..131781823hg38UCSC Ensembl
Innerchr3:131741533..131781790hg38UCSC Ensembl
Outerchr3:131741466..131781857hg38UCSC Ensembl
chr3:131460343..131500667hg19UCSC Ensembl
Innerchr3:131460377..131500634hg19UCSC Ensembl
Outerchr3:131460310..131500701hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3840325
hg1940325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597803
Supporting Variants
SamplesHG01047
Known GenesCPNE4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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