A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv731e212



Internal ID20149187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40227830..40237146hg38UCSC Ensembl
chr15:40520031..40529347hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg389317
hg199317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581644, esv3581645, esv3581648, esv3581646, esv3581643
Samples400359OR, 400927BD, 400554WB, 400906BR, 401117NA, 400506GN, 400449PK, 401249TP, 400059SV, 401355CD, 400493KH, 400937OR, 400134WK, 401566DD, 400186WC, 401764JJ, 401879HJ, 401730MS, 401812HG, 400881GS, 401438HT, 400323AA, 402073LQ, 400532MH, 400782IE
Known GenesPAK6
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)dgv731e212
Frequency
Sample Size873
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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