A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2365e212



Internal ID22785292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115935326..115945579hg38UCSC Ensembl
chrX:115051659..115061912hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3810254
hg1910254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577054, esv3577055, esv3577053
Samples401366WD, 400569WC, 401261HD, 400876OG, 400512LR, 400937OR, 400155CW, 402016HZ, 401935TM, 400270BD, 401376RD, 401397WN, 401617KM, 401717LP, 401278DM, 400043HC, 401084BD, 400722OM, 401428LD, 400069CN, 401413RG, 400312CR, 400879DS, 401763SG, 401266HM, 402023EC, 401576WC, 401993HM, 400645KM
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)dgv2365e212
Frequency
Sample Size873
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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