A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11053474



Internal ID1313422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:80670875..80849058hg38UCSC Ensembl
chr3:80720026..80898209hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38178184
hg19178184
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596732
Supporting Variants
SamplesHG01161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11053474
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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