A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567959



Internal ID18349471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38769015..38779732hg38UCSC Ensembl
Innerchr20:37397658..37408375hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3810718
hg1910718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9819448, essv9819445, essv9819439, essv9819441, essv9819440, essv9819436, essv9819438, essv9819443, essv9819447, essv9819442, essv9819437, essv9819446
Samples400238BB, 400622SJ, 401105WS, 401733CG, 400663MD, 400569WC, 401448BJ, 401874DJ, 401698SB, 400101EH, 400209BS, 401162TM
Known GenesACTR5
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)esv3567959
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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