A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572717



Internal ID18354229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42725381..42730177hg38UCSC Ensembl
Innerchr8:42580524..42585320hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384797
hg194797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788583, essv9788585, essv9788584
Samples400471YS, 400558BL, 401284NA
Known GenesCHRNB3
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)esv3572717
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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