A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9829419



Internal ID18298839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116454112..116460481hg38UCSC Ensembl
InnerchrX:115585278..115591647hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386370
hg196370
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577145
Supporting Variants
Samples400554WB
Known GenesSLC6A14
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
CommentsNumber of probes=15
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9829419
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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