A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275326



Internal ID348232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43765313..43765619hg38UCSC Ensembl
Outerchr5:43762060..43775430hg38UCSC Ensembl
Innerchr5:43765415..43765721hg19UCSC Ensembl
Outerchr5:43762162..43775532hg19UCSC Ensembl
Innerchr5:43801172..43801478hg18UCSC Ensembl
Outerchr5:43797919..43811289hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3813371
hg1913371
hg1813371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585493
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)esv275326
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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