A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv847e212



Internal ID20149303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68768298..68795020hg38UCSC Ensembl
chr16:68802201..68828923hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3826723
hg1926723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571420, esv3571409
Samples401262RR, 400836LK
Known GenesCDH1
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)dgv847e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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