A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1049e212



Internal ID22783976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40846721..40879465hg38UCSC Ensembl
chr19:41352626..41385370hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3832745
hg1932745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583406, esv3583390, esv3583398, esv3583410, esv3583396
Samples401489CB, 400876OG, 400425SL, 400631SJ, 401401BA, 401801LA, 401347DH, 400110MD, 401348RB, 401586RS, 401475MK, 400123WN, 400171BJ, 400014SL, 402074RR, 400091BS, 400269DA
Known GenesCYP2A6, CYP2A7
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)dgv1049e212
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer