A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574043



Internal ID18702241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71548119..71559374hg38UCSC Ensembl
InnerchrX:70767969..70779224hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3811256
hg1911256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9826163, essv9826165, essv9826167, essv9826156, essv9826154, essv9826158, essv9826161, essv9826162, essv9826159, essv9826157, essv9826160, essv9826164
Samples400908PJ, 400739SS, 400622SJ, 401742KB, 401719RL, 400493KH, 400478WE, 400681MC, 401894PD, 400785AK, 401490TL, 401482CB
Known GenesBCYRN1, OGT
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)esv3574043
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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