A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9836939



Internal ID18692739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222484947..222488582hg38UCSC Ensembl
Innerchr2:223349666..223353301hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383636
hg193636
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584358
Supporting Variants
Samples401952UH
Known GenesSGPP2
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
CommentsNumber of probes=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9836939
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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