A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2063e212



Internal ID22784990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28434638..28441422hg38UCSC Ensembl
chr8:28292155..28298939hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg386785
hg196785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572655, esv3572656
Samples400572PJ, 400574MA, 400230TB, 400937OR, 401239PR, 400148MS, 401739BJ, 401606CG, 400047DS, 402060PD, 400835FD, 402042BJ, 401517PR
Known GenesFBXO16
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)dgv2063e212
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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