A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574258



Internal ID18702456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:101274175..101286562hg38UCSC Ensembl
InnerchrX:100529163..100541550hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3812388
hg1912388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2348e212
Supporting Variantsessv9827921, essv9827923, essv9827920, essv9827924, essv9827926, essv9827925, essv9827919, essv9827918
Samples401706BJ, 401077VC, 401258PC, 401906DT, 400061DE, 401251WN, 401519SA, 401630MK
Known GenesTAF7L
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)esv3574258
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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