A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1247e212



Internal ID20149703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45708247..45752976hg38UCSC Ensembl
chr20:44336886..44381615hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3844730
hg1944730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3567991, esv3567990
Samples401498HH, 401330RR, 401602PR, 400615RI, 400236DB, 401540NA, 400123WN, 400888MS, 400520FM, 400759FV, 401040KM, 400508RD, 400238BB, 400704LC
Known GenesSPINT4, WFDC13
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)dgv1247e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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