A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576149



Internal ID18704347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49464472..49479481hg38UCSC Ensembl
Innerchr6:49432185..49447194hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3815010
hg1915010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1769e212
Supporting Variantsessv9779277, essv9779279
Samples401736BF, 401628GC
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)esv3576149
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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