A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9796017



Internal ID18306091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6754902..6872672hg38UCSC Ensembl
Innerchr11:6776133..6893903hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38117771
hg19117771
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579329
Supporting Variants
Samples400770MA
Known GenesOR10A2, OR10A5, OR2AG1, OR2AG2, OR6A2
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=208
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9796017
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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