A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585459



Internal ID347038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150966836..150970723hg38UCSC Ensembl
Outerchr5:150958391..150971428hg38UCSC Ensembl
Innerchr5:150346398..150350285hg19UCSC Ensembl
Outerchr5:150337953..150350990hg19UCSC Ensembl
Innerchr5:150326591..150330478hg18UCSC Ensembl
Outerchr5:150318146..150331183hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3813038
hg1913038
hg1813038
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275105
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)essv2585459
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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