A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9779271



Internal ID18328821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49458721..49479481hg38UCSC Ensembl
Innerchr6:49426434..49447194hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3820761
hg1920761
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576152
Supporting Variants
Samples401448BJ
Known GenesCENPQ, MUT
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
CommentsNumber of probes=48
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9779271
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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