A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582432



Internal ID18363944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87867029..87879632hg38UCSC Ensembl
Innerchr16:87900635..87913238hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3812604
hg1912604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9812118, essv9812126, essv9812116, essv9812114, essv9812117, essv9812134, essv9812130, essv9812132, essv9812115, essv9812129, essv9812120, essv9812121, essv9812131, essv9812127, essv9812124, essv9812128, essv9812125, essv9812135, essv9812113, essv9812119, essv9812123
Samples400702PA, 400478WE, 400677HD, 401611CD, 400482MD, 40031BA, 400070PC, 400732MA, 400356MC, 400230TB, 400934LA, 401994BD, 401677MM, 400769SL, 401151RJ, 400138LA, 401926MR, 400127MD, 401513KC, 401729AC, 400801HS
Known GenesSLC7A5
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)esv3582432
Frequency
Sample Size873
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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