A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1248e212



Internal ID20149704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49274119..49281815hg38UCSC Ensembl
chr20:47890656..47898352hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387697
hg197697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568002, esv3568003
Samples400880TM, 400926LJ, 401427CB, 401249TP, 400730SH, 400629BM, 400620MT, 400558BL, 401869BG, 400413FJ, 400302HW, 401617KM, 401862AN, 401729AC, 401087SF, 400278PD, 400571WV, 400795CL, 400483DP, 402048WB, 401265CB, 401135CS, 400178RH, 400269DA
Known GenesSNORD12, SNORD12B, SNORD12C, ZFAS1, ZNFX1
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)dgv1248e212
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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