A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585535



Internal ID428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6644931..6646126hg38UCSC Ensembl
Outerchr5:6643773..6651128hg38UCSC Ensembl
Innerchr5:6645044..6646239hg19UCSC Ensembl
Outerchr5:6643886..6651241hg19UCSC Ensembl
Innerchr5:6698044..6699239hg18UCSC Ensembl
Outerchr5:6696886..6704241hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg387356
hg197356
hg187356
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275079
Supporting Variants
Samples
Known GenesSRD5A1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585535
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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