A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578178



Internal ID18359690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152356805..152360217hg38UCSC Ensembl
Innerchr1:152329281..152332693hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383413
hg193413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788322
Samples401711WS
Known GenesFLG2, FLG-AS1
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)esv3578178
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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