A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572663



Internal ID18700861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30192776..30197511hg38UCSC Ensembl
Innerchr8:30050292..30055027hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9787796, essv9787792, essv9787797, essv9787790, essv9787791, essv9787794, essv9787788, essv9787798, essv9787795, essv9787793
Samples401749DJ, 401640WJ, 400553PP, 401096SL, 400360SM, 400526DR, 400515ZG, 401477ST, 401519SA, 400043HC
Known GenesMIR548O2
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)esv3572663
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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