A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574449



Internal ID18702647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120688428..120692570hg38UCSC Ensembl
InnerchrX:119822283..119826425hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg384143
hg194143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2401e212
Supporting Variantsessv9829885, essv9829879, essv9829889, essv9829849, essv9829870, essv9829871, essv9829872, essv9829891, essv9829896, essv9829882, essv9829884, essv9829873, essv9829874, essv9829858, essv9829857, essv9829894, essv9829886, essv9829869, essv9829867, essv9829890, essv9829863, essv9829862, essv9829853, essv9829861, essv9829876, essv9829868, essv9829880, essv9829864, essv9829895, essv9829878, essv9829856, essv9829850, essv9829875, essv9829859, essv9829851, essv9829887, essv9829892, essv9829883, essv9829855, essv9829852, essv9829881, essv9829860, essv9829893
Samples401706BJ, 400908PJ, 400145BL, 400105BB, 400970VE, 400574MA, 400995MS, 400899NK, 401824MM, 400948EV, 401582GG, 401006ES, 400588BE, 401532LJ, 400341GL, 400282RA, 401050GS, 400533BB, 401125LM, 401652HL, 400375KA, 401519SA, 401825TH, 400076LC, 400361HC, 400888MS, 400258BC, 400354TJ, 400695PH, 401700BN, 400818BL, 400770MA, 400712GC, 400328LM, 401681MS, 401266HM, 400835FD, 400173KP, 401932GN, 401066MM, 400942HR, 400091BS, 400494ML
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)esv3574449
Frequency
Sample Size873
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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