A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581111



Internal ID18709309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34959608..34969665hg38UCSC Ensembl
Innerchr14:35428814..35438871hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3810058
hg1910058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv623e212
Supporting Variantsessv9805158, essv9805159, essv9805157
Samples401117NA, 400558BL, 400523GB
Known Genes
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)esv3581111
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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