A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582579



Internal ID18710777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22728143..22762465hg38UCSC Ensembl
Innerchr17:22227470..22261792hg19UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg3834323
hg1934323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv900e212
Supporting Variantsessv9812840, essv9812876, essv9812848, essv9812854, essv9812865, essv9812871, essv9812869, essv9812875, essv9812874, essv9812847, essv9812872, essv9812863, essv9812860, essv9812873, essv9812852, essv9812849, essv9812861, essv9812858, essv9812857, essv9812851, essv9812859, essv9812877, essv9812845, essv9812868, essv9812853, essv9812862, essv9812846, essv9812856, essv9812842, essv9812870, essv9812841, essv9812879, essv9812864, essv9812850, essv9812843
Samples401021SC, 400247CL, 401749DJ, 401033DJ, 401420PJ, 401380OL, 401079HJ, 401491BB, 400834SS, 401093VL, 400199SA, 400425SL, 400558BL, 400893ZE, 400718PS, 401935TM, 400073HT, 400374LB, 401238QR, 401732HW, 400236DB, 402033WD, 401540NA, 401210PB, 401084BD, 401630MK, 400006DK, 400248JO, 401580CA, 40050SB, 400845ML, 402073LQ, 402023EC, 400300SD, 401068SD
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)esv3582579
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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