A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568002



Internal ID18349514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49274119..49281641hg38UCSC Ensembl
Innerchr20:47890656..47898178hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387523
hg197523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1248e212
Supporting Variantsessv9819727, essv9819733, essv9819734, essv9819725, essv9819745, essv9819740, essv9819746, essv9819735, essv9819728, essv9819723, essv9819742, essv9819741, essv9819731, essv9819747, essv9819726, essv9819737, essv9819738, essv9819729, essv9819744, essv9819739, essv9819730, essv9819724, essv9819736
Samples400880TM, 400926LJ, 401427CB, 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)esv3568002
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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