A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579782



Internal ID18707980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55686087..56244978hg38UCSC Ensembl
Innerchr11:55453563..56012454hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38558892
hg19558892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9798240
Samples400671PP
Known GenesOR10AG1, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5T2, OR5W2, OR7E5P, OR8H2, OR8H3, OR8I2, OR8J3, OR8K5, TRIM51
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3579782
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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