A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11222031



Internal ID3003163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169742923..169757567hg38UCSC Ensembl
chr3:169460711..169475355hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3814645
hg1914645
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598604
Supporting Variants
SamplesHG02649
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11222031
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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