A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275089



Internal ID1309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82679404..82679498hg38UCSC Ensembl
Outerchr16:82678710..82680429hg38UCSC Ensembl
Innerchr16:82713009..82713103hg19UCSC Ensembl
Outerchr16:82712315..82714034hg19UCSC Ensembl
Innerchr16:81270510..81270604hg18UCSC Ensembl
Outerchr16:81269816..81271535hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585158
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)esv275089
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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