A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578541



Internal ID18360053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247990966..248055709hg38UCSC Ensembl
Innerchr1:248154268..248219011hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3864744
hg1964744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9810255
Samples400825TW
Known GenesOR2L13, OR2L1P, OR2L2, 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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3578541
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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