A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275105



Internal ID348011
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585459, essv2585260
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)esv275105
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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