A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1313e212



Internal ID22784240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32987434..33007187hg38UCSC Ensembl
chr22:33383419..33403172hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3819754
hg1919754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568370, esv3568372, esv3568371
Samples401474CE, 400618GC, 400987FB, 400241CP, 400360SM, 401975VD, 400320RN, 400348DK, 400038CK, 400660GK, 400543CK, 401318AV, 401952UH, 400978JG, 401587RC, 400135DR, 400201PK, 400770MA, 400722OM, 402048WB, 400205SP, 401215MJ, 402073LQ, 401266HM, 400508RD
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)dgv1313e212
Frequency
Sample Size873
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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