A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574436



Internal ID18702634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120336832..120339651hg38UCSC Ensembl
InnerchrX:119470687..119473506hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg382820
hg192820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2398e212
Supporting Variantsessv9829835, essv9829826, essv9829825, essv9829831, essv9829817, essv9829829, essv9829824, essv9829819, essv9829820, essv9829818, essv9829828, essv9829833, essv9829822, essv9829827, essv9829834, essv9829830, essv9829823
Samples400908PJ, 401856GC, 401674DD, 401936BA, 401551MB, 401831TW, 401791FG, 401406KF, 401652HL, 401444LD, 401812HG, 401086MD, 400450FG, 401693RC, 401438HT, 400859SC, 401265CB
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)esv3574436
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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