A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574981



Internal ID18356493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:150823294..150825391hg38UCSC Ensembl
InnerchrX:149991767..149993864hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg382098
hg192098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9833768, essv9833772, essv9833757, essv9833750, essv9833769, essv9833759, essv9833764, essv9833762, essv9833771, essv9833754, essv9833751, essv9833770, essv9833761, essv9833760, essv9833758, essv9833753, essv9833765, essv9833752, essv9833763, essv9833766
Samples401457WK, 400453LN, 400658BW, 402064DC, 400631SJ, 400127MD, 401566DD, 401303FM, 401994BD, 400344DR, 400929MM, 401691HA, 400110MD, 401694SG, 401506LK, 401067BD, 401847RK, 401858TP, 401554VN, 400508RD
Known GenesCD99L2
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)esv3574981
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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