A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv642e212



Internal ID20149098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63300256..63399207hg38UCSC Ensembl
chr14:63766974..63865925hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3898952
hg1998952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3567921, esv3567932
Samples401180GR, 401852SK
Known GenesGPHB5, PPP2R5E
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)dgv642e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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