A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581403



Internal ID18709601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:98714967..98726637hg38UCSC Ensembl
Innerchr14:99181304..99192974hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3811671
hg1911671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807190, essv9807186, essv9807187, essv9807185, essv9807184, essv9807183, essv9807189
Samples400377WJ, 400622SJ, 401321CE, 400002HK, 401853WR, 401268PS, 401025SM
Known GenesC14orf177
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)esv3581403
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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