A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581101



Internal ID18709299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31775089..31836115hg38UCSC Ensembl
Innerchr14:32244295..32305321hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3861027
hg1961027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805137
Samples400955BE
Known GenesNUBPL
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)esv3581101
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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