A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1287e212



Internal ID22784214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19697268..19702174hg38UCSC Ensembl
chr22:19684791..19689697hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384907
hg194907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568255, esv3568256
Samples400075MR, 401235IA, 400294HD, 401117NA, 401079HJ, 400506GN, 401096SL, 401733CG, 400797ST, 400245SJ, 402016HZ, 401258PC, 400718PS, 402028BD, 402064DC, 402065BG, 400022WA, 401104DM, 400060MC, 400218WK, 401377MA, 400282RA, 401591BE, 401870FB, 400040CN, 401736BF, 401652HL, 400375KA, 400758KP, 400543CK, 401864CV, 401084BD, 401952UH, 401039PA, 401182OC, 400274TL, 400444MM, 401334DH, 401391PJ, 400156WT, 400376SJ, 401958MF, 401265CB, 401781SL, 400266BA, 400178RH, 400243CK, 400942HR
Known Genes
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)dgv1287e212
Frequency
Sample Size873
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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