A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3572648

Internal ID18354160
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:26367602..26402306hg38UCSC Ensembl
Innerchr8:26225118..26259822hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9787715, essv9787723, essv9787713, essv9787718, essv9787724, essv9787714, essv9787712, essv9787722, essv9787720, essv9787716, essv9787717, essv9787719
Samples400271SR, 401016IT, 401086MD, 400733SW, 401384BP, 401780BB, 400329HJ, 401956DQ, 401362ME, 400127MD, 400660GK, 401025SM
Known GenesBNIP3L, PPP2R2A
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
Pubmed ID25503493
Accession Number(s)esv3572648
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0

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