A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574323



Internal ID18702521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115925315..115926598hg38UCSC Ensembl
InnerchrX:115041648..115042931hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9828409, essv9828406, essv9828405, essv9828407, essv9828408
Samples400927BD, 400038CK, 401437MJ, 401875FG, 400450FG
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)esv3574323
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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