A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9798241



Internal ID18675970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:56012993..56275979hg38UCSC Ensembl
Innerchr11:55780469..56043455hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38262987
hg19262987
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579715
Supporting Variants
Samples401460LW
Known GenesOR5AS1, OR5J2, OR5T1, OR5T2, OR5T3, OR8H2, OR8H3, OR8I2, OR8J3, 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=320
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9798241
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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