A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568442



Internal ID18349954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:101820594..101824111hg38UCSC Ensembl
Innerchr14:102286931..102290448hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg383518
hg193518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807201, essv9807209, essv9807204, essv9807203, essv9807208, essv9807198, essv9807202, essv9807205, essv9807210, essv9807212, essv9807206, essv9807207
Samples401453OL, 401594MP, 401474CE, 402064DC, 401152MV, 402074RR, 400230TB, 401252AE, 400323AA, 400221VM, 401190WC, 401198TI
Known GenesPPP2R5C
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)esv3568442
Frequency
Sample Size873
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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