A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567960



Internal ID18349472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38769015..38785518hg38UCSC Ensembl
Innerchr20:37397658..37414161hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3816504
hg1916504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1242e212
Supporting Variantsessv9819461, essv9819468, essv9819449, essv9819467, essv9819456, essv9819469, essv9819454, essv9819464, essv9819458, essv9819452, essv9819450, essv9819457, essv9819462, essv9819459, essv9819453, essv9819465, essv9819470, essv9819463, essv9819460, essv9819451
Samples401459HF, 400114GR, 401385BB, 400377WJ, 401498HH, 400866RR, 401368WR, 401550SP, 401198TI, 401619BT, 400639RP, 401702GB, 401940SJ, 400474GF, 401700BN, 400103BN, 400863SS, 401254AE, 400494ML, 401497PR
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)esv3567960
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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