A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275590



Internal ID348496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:55033554..55048102hg38UCSC Ensembl
Outerchr13:55033375..55057086hg38UCSC Ensembl
Innerchr13:55607689..55622237hg19UCSC Ensembl
Outerchr13:55607510..55631221hg19UCSC Ensembl
Innerchr13:54505690..54520238hg18UCSC Ensembl
Outerchr13:54505511..54529222hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3823712
hg1923712
hg1823712
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586112, essv2585883
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)esv275590
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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