A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577404



Internal ID18358916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:136350778..136358090hg38UCSC Ensembl
InnerchrX:135432937..135440249hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg387313
hg197313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2477e212
Supporting Variantsessv9832128, essv9832116, essv9832148, essv9832131, essv9832107, essv9832127
Samples400917CG, 400356MC, 400524NJ, 400818BL, 401611CD, 400835FD
Known GenesGPR112
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)esv3577404
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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