A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275473



Internal ID348379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186534982..186537043hg38UCSC Ensembl
Outerchr3:186531930..186537260hg38UCSC Ensembl
Innerchr3:186252771..186254832hg19UCSC Ensembl
Outerchr3:186249719..186255049hg19UCSC Ensembl
Innerchr3:187735465..187737526hg18UCSC Ensembl
Outerchr3:187732413..187737743hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg385331
hg195331
hg185331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585790
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275473
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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