A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv514e212



Internal ID19007722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111735392..111884067hg38UCSC Ensembl
chr12:112173196..112321871hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38148676
hg19148676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581860, esv3581882, esv3581871
Samples401812HG, 401263HS, 400235MP
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
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)dgv514e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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