A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581144



Internal ID18709342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:41739088..41743319hg38UCSC Ensembl
Innerchr14:42208291..42212522hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg384232
hg194232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv626e212
Supporting Variantsessv9805360, essv9805369, essv9805363, essv9805364, essv9805368, essv9805361, essv9805367, essv9805362, essv9805359, essv9805365
Samples401117NA, 401183HP, 401551MB, 400733SW, 401853WR, 401652HL, 401889FR, 400362TV, 400769SL, 400209BS
Known GenesLRFN5
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)esv3581144
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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