A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576151



Internal ID18704349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49464472..49479569hg38UCSC Ensembl
Innerchr6:49432185..49447282hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3815098
hg1915098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1769e212
Supporting Variantsessv9779280, essv9779282, essv9779281
Samples400643LD, 401634CH, 400211BJ
Known GenesCENPQ
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)esv3576151
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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