A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810277



Internal ID18299947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248013292..248074660hg38UCSC Ensembl
Innerchr1:248176594..248237962hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3861369
hg1961369
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575883
Supporting Variants
Samples400588BE
Known GenesOR2L13, OR2L2, OR2L3, OR2L5
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=68
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810277
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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