A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv725e212



Internal ID22783652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28414765..28713633hg38UCSC Ensembl
chr15:28659911..28958779hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38298869
hg19298869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581609, esv3581608
Samples400442FE, 400654YW
Known GenesGOLGA8F, GOLGA8G, GOLGA8M, HERC2P9, MIR4509-1, MIR4509-2, MIR4509-3
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)dgv725e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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