A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv917e212



Internal ID20149373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39126768..39142402hg38UCSC Ensembl
chr17:37283021..37298655hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3815635
hg1915635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582640, esv3582639
Samples401739BJ, 400609FJ, 401664SD, 400606HW, 400127MD
Known GenesPLXDC1
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)dgv917e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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