A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581315



Internal ID18362827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:76155402..76173245hg38UCSC Ensembl
Innerchr14:76621745..76639588hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3817844
hg1917844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9806874, essv9806871, essv9806872, essv9806869, essv9806870, essv9806873
Samples400141CC, 401695BT, 400109LJ, 401879HJ, 401606CG, 400494ML
Known GenesGPATCH2L
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)esv3581315
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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