A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583787



Internal ID18711985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48513627..48526205hg38UCSC Ensembl
Innerchr2:48740766..48753344hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3812579
hg1912579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9823345, essv9823255, essv9823055, essv9823378, essv9822922, essv9823266, essv9823356, essv9823111, essv9823077, essv9823222, essv9823122, essv9822900, essv9823277, essv9823133, essv9822966, essv9823200, essv9823011, essv9823022, essv9823033, essv9823144, essv9823000, essv9823044, essv9823211, essv9823334, essv9823177, essv9823066, essv9823367, essv9823312, essv9823100, essv9822933, essv9823389, essv9822989, essv9822978, essv9823155, essv9823166, essv9822955, essv9823233, essv9823299, essv9822911, essv9823323, essv9823188, essv9823288, essv9822944, essv9823244, essv9823089
Samples400911GA, 400359OR, 400618GC, 400619MP, 400114GR, 401385BB, 400313DF, 401235IA, 400995MS, 400655WB, 401674DD, 401500OM, 401936BA, 401258PC, 401924ST, 401860TJ, 400051MR, 401006ES, 400460DM, 401165SB, 400341GL, 401448BJ, 401913GT, 401125LM, 401494PD, 401804FG, 400967PK, 401822TL, 400242TP, 402074RR, 401307VR, 400451kh, 400722OM, 400053LE, 400845ML, 401012TP, 400267GD, 401571SD, 401152MV, 401143LK, 401543DC, 401284NA, 400164SS, 401517PR, 400243CK
Known GenesPPP1R21
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)esv3583787
Frequency
Sample Size873
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer