A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575337



Internal ID18703535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229849253..230039159hg38UCSC Ensembl
Innerchr2:230713969..230903875hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38189907
hg19189907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837079
Samples401769CR
Known GenesFBXO36, SLC16A14, TRIP12
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)esv3575337
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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