A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584461



Internal ID18365973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14801038..14914508hg38UCSC Ensembl
Innerchr20:14781684..14895154hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38113471
hg19113471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1231e212
Supporting Variantsessv9819197
Samples400825TW
Known GenesMACROD2, MACROD2-AS1
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)esv3584461
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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