A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9797503



Internal ID18328960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54934036..55454024hg38UCSC Ensembl
Innerchr11:54701512..55221500hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38519989
hg19519989
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579205
Supporting Variants
Samples401454CD
Known GenesOR4A15, OR4A16, TRIM48, TRIM51HP
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=470
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9797503
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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