A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9797919



Internal ID18331444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55606700..55685520hg38UCSC Ensembl
Innerchr11:55374176..55452996hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3878821
hg1978821
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579623
Supporting Variants
Samples401514BA
Known GenesOR4C6, OR4P4, OR4S2
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=96
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9797919
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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