A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151960



Internal ID1153776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131361494..131382962hg38UCSC Ensembl
chr3:131080338..131101806hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3821469
hg1921469
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597788
Supporting Variants
SamplesHG03172
Known GenesLOC339874, NUDT16, NUDT16P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151960
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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