A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578415



Internal ID18706613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214464649..214469073hg38UCSC Ensembl
Innerchr1:214637992..214642416hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384425
hg194425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145e212
Supporting Variantsessv9805288, essv9805322, essv9805355, essv9805266, essv9805344, essv9805366, essv9805277, essv9805311, essv9805377, essv9805333, essv9805299
Samples40031BA, 400337HG, 400478WE, 401238QR, 400383HL, 401725MR, 401499JR, 401454CD, 401311GL, 400278PD, 401438HT
Known GenesPTPN14
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)esv3578415
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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