A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569416



Internal ID18697614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48766178..48782242hg38UCSC Ensembl
Innerchr4:48768195..48784259hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3816065
hg1916065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9770826, essv9770825, essv9770828, essv9770831, essv9770824, essv9770830, essv9770827, essv9770829
Samples400132HN, 401780BB, 401084TD, 401762SD, 400278PD, 400014SL, 401898DS, 402042BJ
Known GenesFRYL
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)esv3569416
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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