A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578079



Internal ID18359591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109471333..109482020hg38UCSC Ensembl
Innerchr1:110013955..110024642hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3810688
hg1910688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9781300, essv9781289
Samples400450FG, 401687LR
Known GenesSYPL2
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)esv3578079
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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