A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv754e212



Internal ID22783681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85181918..85597222hg38UCSC Ensembl
chr15:85725149..86140453hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38415305
hg19415305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569853, esv3569842
Samples401368WR, 400291VJ
Known GenesAKAP13, LOC642423
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)dgv754e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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