A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576517



Internal ID18704715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8235544..8290077hg38UCSC Ensembl
Innerchr8:8093066..8147599hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3854534
hg1954534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2036e212
Supporting Variantsessv9786965, essv9786967
Samples401958MF, 400177SJ
Known GenesFAM86B3P
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)esv3576517
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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