A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11088992



Internal ID3460993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:102252343..102309186hg38UCSC Ensembl
chr3:101971187..102028030hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3856844
hg1956844
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597203
Supporting Variants
SamplesHG03082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11088992
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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