A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581697



Internal ID18363209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49962216..49965493hg38UCSC Ensembl
Innerchr15:50254413..50257690hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808712, essv9808714, essv9808713, essv9808715, essv9808708, essv9808711, essv9808716, essv9808709
Samples401681MS, 400759FV, 400507VD, 401977ES, 400344DR, 401102RD, 401860TJ, 400718PS
Known GenesATP8B4
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)esv3581697
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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