A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575642



Internal ID18357154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183070356..183071483hg38UCSC Ensembl
Innerchr3:182788144..182789271hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9769100
Samples401016IT
Known GenesMCCC1
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)esv3575642
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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