A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597544



Internal ID6984684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:118995277..119055527hg38UCSC Ensembl
chr3:118714124..118774374hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3860251
hg1960251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11116195, essv11116192, essv11116185, essv11116190, essv11116186, essv11116194, essv11116189, essv11116188, essv11116191, essv11116193, essv11116187
SamplesNA20762, HG04211, HG03679, HG04020, HG03714, HG01515, HG03771, HG01607, HG03689, HG04003, NA20887
Known GenesIGSF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597544
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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