A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578007



Internal ID18359519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89009426..89012283hg38UCSC Ensembl
Innerchr1:89475109..89477966hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382858
hg192858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62e212
Supporting Variantsessv9776878, essv9776867
Samples401238QR, 401437MJ
Known GenesGBP3
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)esv3578007
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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