A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9798253



Internal ID18656770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:56141223..56293053hg38UCSC Ensembl
Innerchr11:55908699..56060529hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38151831
hg19151831
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579722
Supporting Variants
Samples400888MS
Known GenesOR5J2, OR5T1, OR5T2, OR5T3, OR8H1, OR8K5
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=148
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9798253
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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