A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572776



Internal ID18700974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57003776..57016631hg38UCSC Ensembl
Innerchr8:57916335..57929190hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3812856
hg1912856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2083e212
Supporting Variantsessv9788737, essv9788734, essv9788735, essv9788736
Samples400141CC, 400340CD, 401413RG, 401265CB
Known Genes
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)esv3572776
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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