A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9802180



Internal ID18340369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111743241..111875884hg38UCSC Ensembl
Innerchr12:112181045..112313688hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38132644
hg19132644
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581871
Supporting Variants
Samples401812HG
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
CommentsNumber of probes=134
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9802180
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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