A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597520



Internal ID6637790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:117447743..117906312hg38UCSC Ensembl
chr3:117166590..117625159hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38458570
hg19458570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11112630, essv11112631, essv11112632
SamplesNA21097, HG01308, NA19451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597520
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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