A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568370



Internal ID18696568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32987814..33005230hg38UCSC Ensembl
Innerchr22:33383799..33401215hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3817417
hg1917417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1313e212
Supporting Variantsessv9822067, essv9822062, essv9822060, essv9822051, essv9822058, essv9822053, essv9822066, essv9822072, essv9822059, essv9822069, essv9822070, essv9822063, essv9822064, essv9822061, essv9822055, essv9822050, essv9822052, essv9822073, essv9822074, essv9822068, essv9822057, essv9822071, essv9822056
Samples401474CE, 400618GC, 400987FB, 400241CP, 400360SM, 401975VD, 400320RN, 400348DK, 400038CK, 400660GK, 400543CK, 401318AV, 401952UH, 400978JG, 401587RC, 400201PK, 400770MA, 400722OM, 402048WB, 400205SP, 401215MJ, 402073LQ, 401266HM
Known GenesSYN3
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)esv3568370
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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