A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11116190



Internal ID4168157
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597544
Supporting Variants
SamplesHG03771
Known GenesIGSF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11116190
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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