A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275268



Internal ID1488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83617318..83618112hg38UCSC Ensembl
Outerchr16:83610385..83619297hg38UCSC Ensembl
Innerchr16:83650923..83651717hg19UCSC Ensembl
Outerchr16:83643990..83652902hg19UCSC Ensembl
Innerchr16:82208424..82209218hg18UCSC Ensembl
Outerchr16:82201491..82210403hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg388913
hg198913
hg188913
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586149, essv2585759
Samples
Known GenesCDH13
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275268
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