A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275004



Internal ID1224
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585426
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)esv275004
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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