A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1259e212



Internal ID19008467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64089639..64097793hg38UCSC Ensembl
chr20:62720992..62729146hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg388155
hg198155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575378, esv3575377
Samples400671PP, 400503HD
Known GenesOPRL1
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)dgv1259e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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