A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2382e212



Internal ID20150838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:116454112..116460923hg38UCSC Ensembl
chrX:115585278..115592090hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386812
hg196813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577143, esv3577144, esv3577141, esv3577130, esv3577140, esv3577145
Samples400359OR, 400554WB, 401151RJ, 401190WC, 400360SM, 402028BD, 400343BD, 400148MS, 400356MC, 400032RC, 400507VD, 401050GS, 400515ZG, 401084TD, 401432SB, 401423BA, 401513KC, 400047DS, 401414CR, 401884WJ, 400722OM, 401844ZD, 400677HD, 401786WD, 400013TA, 401458RT, 400213DB, 402024BB
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv2382e212
Frequency
Sample Size873
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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