A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11020106



Internal ID5175928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57172465..57187324hg38UCSC Ensembl
chr3:57206493..57221352hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3814860
hg1914860
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596227
Supporting Variants
SamplesNA18603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11020106
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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