A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275088



Internal ID347994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2417911..2417974hg38UCSC Ensembl
Outerchr5:2417303..2419669hg38UCSC Ensembl
Innerchr5:2418025..2418088hg19UCSC Ensembl
Outerchr5:2417417..2419783hg19UCSC Ensembl
Innerchr5:2471025..2471088hg18UCSC Ensembl
Outerchr5:2470417..2472783hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382367
hg192367
hg182367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585973
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)esv275088
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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