A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597788



Internal ID6638055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131361494..131382962hg38UCSC Ensembl
chr3:131080338..131101806hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3821469
hg1921469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151961, essv11151960
SamplesNA19197, HG03172
Known GenesLOC339874, NUDT16, NUDT16P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597788
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer