A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv190e212



Internal ID20148646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18213807..18217424hg38UCSC Ensembl
chr10:18502736..18506353hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg383618
hg193618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576183, esv3576172
Samples400124FR, 401066MM
Known GenesCACNB2
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)dgv190e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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