A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586112



Internal ID347691
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 loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275590
Supporting Variants
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)essv2586112
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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