A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv465e212



Internal ID20148921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20810145..20814533hg38UCSC Ensembl
chr12:20963079..20967467hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg384389
hg194389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580177, esv3580178
Samples400577MK, 401075MN
Known GenesSLCO1B3
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)dgv465e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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