A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585594



Internal ID347173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94965156..94967349hg38UCSC Ensembl
Outerchr13:94965085..94969558hg38UCSC Ensembl
Innerchr13:95617410..95619603hg19UCSC Ensembl
Outerchr13:95617339..95621812hg19UCSC Ensembl
Innerchr13:94415411..94417604hg18UCSC Ensembl
Outerchr13:94415340..94419813hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg384474
hg194474
hg184474
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274954
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)essv2585594
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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