A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275275



Internal ID1495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82851808..82852528hg38UCSC Ensembl
Outerchr16:82851613..82853274hg38UCSC Ensembl
Innerchr16:82885413..82886133hg19UCSC Ensembl
Outerchr16:82885218..82886879hg19UCSC Ensembl
Innerchr16:81442914..81443634hg18UCSC Ensembl
Outerchr16:81442719..81444380hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381662
hg191662
hg181662
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586034, essv2586107
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)esv275275
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