A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1048e212



Internal ID22783975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40846721..40870102hg38UCSC Ensembl
chr19:41352626..41376007hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3823382
hg1923382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583399, esv3583407, esv3583391, esv3583403, esv3583404, esv3583409, esv3583392, esv3583395, esv3583408
Samples401221LD, 400622SJ, 400730SH, 401434VN, 400307HW, 400983PV, 400496BL, 401318AV, 400705KK, 400006DK, 400869BK, 401295HB, 401177SL, 400079AP
Known GenesCYP2A6
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)dgv1048e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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