A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11160811



Internal ID4433697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139206057..139237904hg38UCSC Ensembl
chr3:138924899..138956746hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3831848
hg1931848
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597932
Supporting Variants
SamplesHG03945
Known GenesPISRT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11160811
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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