A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581404



Internal ID18709602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99193363..99201350hg38UCSC Ensembl
Innerchr14:99659700..99667687hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387988
hg197988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807191, essv9807192
Samples400705KK, 400271SR
Known GenesBCL11B
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)esv3581404
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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