A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584433



Internal ID18712631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4792664..4799762hg38UCSC Ensembl
Innerchr20:4773310..4780408hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg387099
hg197099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9819126, essv9819127
Samples402028BD, 401050GS
Known GenesRASSF2
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)esv3584433
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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