A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585158



Internal ID51
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275089
Supporting Variants
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)essv2585158
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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