A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572852



Internal ID18701050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80920730..80930629hg38UCSC Ensembl
Innerchr8:81832965..81842864hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2094e212
Supporting Variantsessv9789144, essv9789143
Samples400669LD, 400571WV
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)esv3572852
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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