A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574139



Internal ID18355651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:85895892..85901247hg38UCSC Ensembl
InnerchrX:85150897..85156252hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826841, essv9826846, essv9826852, essv9826837, essv9826845, essv9826849, essv9826857, essv9826838, essv9826853, essv9826861, essv9826847, essv9826854, essv9826839, essv9826858, essv9826834, essv9826843, essv9826860, essv9826836, essv9826840, essv9826856, essv9826862, essv9826842, essv9826851, essv9826850, essv9826848, essv9826835, essv9826859
Samples401308LD, 400788PV, 401355CD, 401307VR, 400572PJ, 401453OL, 401091HS, 400631SJ, 400482MD, 402033WD, 401029SD, 401096SL, 400422PN, 401420PJ, 401773AM, 401873BK, 400732MA, 401084BD, 401133JG, 400243CK, 401778CB, 400124FR, 401493HC, 400483DP, 400101EH, 401261HD, 401400NP
Known GenesCHM
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)esv3574139
Frequency
Sample Size873
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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