A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275454



Internal ID1674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58722642..58723666hg38UCSC Ensembl
Outerchr3:58721434..58725966hg38UCSC Ensembl
Innerchr3:58708369..58709393hg19UCSC Ensembl
Outerchr3:58707161..58711693hg19UCSC Ensembl
Innerchr3:58683409..58684433hg18UCSC Ensembl
Outerchr3:58682201..58686733hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384533
hg194533
hg184533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585983
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)esv275454
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