A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581295



Internal ID18709493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73554052..73583548hg38UCSC Ensembl
Innerchr14:74020756..74050252hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3829497
hg1929497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv662e212
Supporting Variantsessv9806845, essv9806838, essv9806843, essv9806839, essv9806840, essv9806841, essv9806842
Samples400528LR, 402038MR, 401785MJ, 400943DV, 400930MK, 401254AE, 401207DA
Known GenesACOT2, HEATR4
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)esv3581295
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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