A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2056e212



Internal ID19009264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18567221..18573046hg38UCSC Ensembl
chr8:18424731..18430556hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385826
hg195826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576531, esv3576530
Samples401673DM, 401979TB, 401013GJ, 401746WW
Known GenesPSD3
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)dgv2056e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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