A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1490e212



Internal ID20149946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68494758..68620109hg38UCSC Ensembl
chr4:69360476..69485827hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125352
hg19125352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575740, esv3575733, esv3575734, esv3575721, esv3575732, esv3575737, esv3575715, esv3575736, esv3575725, esv3575726
Samples400316SL, 401385BB, 401742KB, 401064FR, 400583HS, 400650RM, 400032RC, 401133JG, 400198MD, 400060MC, 401377MA, 402033WD, 400207HN, 401519SA, 401864CV, 401506LK, 400171BJ, 401812HG, 401200BD, 401112LG, 401182OC, 401571SD, 402073LQ, 400271SR, 400581VJ, 400668TD
Known GenesTMPRSS11E, UGT2B17
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)dgv1490e212
Frequency
Sample Size873
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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