A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572808



Internal ID18354320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:70353799..70359313hg38UCSC Ensembl
Innerchr8:71266034..71271548hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385515
hg195515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788818, essv9788813, essv9788815, essv9788814, essv9788820, essv9788817, essv9788816, essv9788819
Samples400987FB, 400319HT, 401563TK, 401477ST, 401550SP, 400323AA, 400721DJ, 400833BB
Known GenesNCOA2
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)esv3572808
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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