A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274911



Internal ID347871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79629356..79629525hg38UCSC Ensembl
Outerchr16:79628843..79630209hg38UCSC Ensembl
Innerchr16:79663253..79663422hg19UCSC Ensembl
Outerchr16:79662740..79664106hg19UCSC Ensembl
Innerchr16:78220754..78220923hg18UCSC Ensembl
Outerchr16:78220241..78221607hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381367
hg191367
hg181367
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585378, essv2585454
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)esv274911
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer