A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv868e212



Internal ID20149324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83296671..83299354hg38UCSC Ensembl
chr16:83330276..83332959hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg382684
hg192684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582402, esv3582404, esv3582403, esv3582406
Samples401192MJ, 401052BM, 400238BB, 400888MS, 401495NR, 401039PA, 400132HN, 400381CA, 401566DD, 400106PC, 401517PR, 400379BB, 400376SJ, 401210PB, 400893ZE, 400038CK, 401021SC, 401177SL, 402029KJ, 401714BM, 401110GJ, 400063BR, 401143LK, 400077EB, 400506GN, 400247CL, 400876OG, 401618HR, 401496SL, 401899MB, 401875FG, 400084DM, 400186WC, 400970VE, 400083TG, 401006ES, 400791GC, 400235MP, 400156WT, 401369GR
Known GenesCDH13
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv868e212
Frequency
Sample Size873
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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