A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275233



Internal ID1453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83021815..83022527hg38UCSC Ensembl
Outerchr16:83020024..83023724hg38UCSC Ensembl
Innerchr16:83055420..83056132hg19UCSC Ensembl
Outerchr16:83053629..83057329hg19UCSC Ensembl
Innerchr16:81612921..81613633hg18UCSC Ensembl
Outerchr16:81611130..81614830hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg383701
hg193701
hg183701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585364, essv2585362
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)esv275233
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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