A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575583



Internal ID18357095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16237441..16266843hg38UCSC Ensembl
Innerchr1:16563936..16593338hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3829403
hg1929403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv18e212
Supporting Variantsessv9799643, essv9799754
Samples400618GC, 400410CD
Known GenesFBXO42
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)esv3575583
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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