A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275545



Internal ID1765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28604521..28604926hg38UCSC Ensembl
Outerchr21:28601975..28605933hg38UCSC Ensembl
Innerchr21:29976843..29977248hg19UCSC Ensembl
Outerchr21:29974297..29978255hg19UCSC Ensembl
Innerchr21:28898714..28899119hg18UCSC Ensembl
Outerchr21:28896168..28900126hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg383959
hg193959
hg183959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585115
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)esv275545
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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