A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575548



Internal ID18357060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12521381..12631860hg38UCSC Ensembl
Innerchr3:12562880..12673359hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38110480
hg19110480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837551
Samples400381CA
Known GenesC3orf83, MKRN2, RAF1, TSEN2
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)esv3575548
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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