A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10991547



Internal ID5915189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:41873454..42129694hg38UCSC Ensembl
chr3:41914946..42171186hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38256241
hg19256241
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595984
Supporting Variants
SamplesNA19327
Known GenesTRAK1, ULK4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10991547
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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