A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4e212



Internal ID20148460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1696966..1756488hg38UCSC Ensembl
chr1:1628405..1687927hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3859523
hg1959523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578915, esv3567895, esv3577804, esv3576693
Samples401460LW, 401117NA, 400641WJ, 400343BD, 400109LJ, 400793BR, 401526WB, 400375KA, 400800MW, 401087SF, 400213DB, 401490TL
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2
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)dgv4e212
Frequency
Sample Size873
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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