A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1491e212



Internal ID20149947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68500975..68678617hg38UCSC Ensembl
chr4:69366693..69544335hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38177643
hg19177643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575729, esv3575742, esv3575741, esv3575735, esv3575738, esv3575718
Samples400618GC, 400313DF, 401117NA, 401975VD, 401538NS, 400109LJ, 401013GJ, 401952UH, 400705KK, 400177CG, 401894PD, 400996MC, 401932GN, 401066MM
Known GenesUGT2B15, 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)dgv1491e212
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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