A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11002624



Internal ID4943511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47516707..47523672hg38UCSC Ensembl
chr3:47558197..47565162hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386966
hg196966
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596086
Supporting Variants
SamplesNA12813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11002624
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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