A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585426



Internal ID319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82646665..82646921hg38UCSC Ensembl
Outerchr16:82645927..82648882hg38UCSC Ensembl
Innerchr16:82680270..82680526hg19UCSC Ensembl
Outerchr16:82679532..82682487hg19UCSC Ensembl
Innerchr16:81237771..81238027hg18UCSC Ensembl
Outerchr16:81237033..81239988hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382956
hg192956
hg182956
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275004
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)essv2585426
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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