A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568251



Internal ID18349763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19111322..19113482hg38UCSC Ensembl
Innerchr22:19098835..19100995hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382161
hg192161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1286e212
Supporting Variantsessv9820902, essv9820896, essv9820900, essv9820918, essv9820893, essv9820922, essv9820905, essv9820901, essv9820917, essv9820914, essv9820919, essv9820904, essv9820903, essv9820894, essv9820920, essv9820911, essv9820897, essv9820925, essv9820915, essv9820895, essv9820923, essv9820908, essv9820892, essv9820916, essv9820907, essv9820912, essv9820909, essv9820898, essv9820924, essv9820913, essv9820906
Samples400268SY, 401079HJ, 400852WJ, 401602PR, 400620MT, 400347VJ, 401190WC, 401281BP, 402028BD, 400482MD, 401695BT, 401104DM, 402061PI, 401977ES, 401437MJ, 401251WN, 401623SN, 401119DK, 401730MS, 401478RD, 401311GL, 401067BD, 400371GA, 400624RJ, 400158FB, 400712GC, 401025SM, 4000046CJ, 402008MC, 400704LC, 401180GR
Known GenesDGCR2
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)esv3568251
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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