A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572512



Internal ID18354024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11414686..11422238hg38UCSC Ensembl
Innerchr8:11272195..11279747hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387553
hg197553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9787010, essv9787012, essv9787009
Samples401674DD, 400246MG, 400150SS
Known GenesC8orf12, FAM167A
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)esv3572512
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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