A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758563



Internal ID9634022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:9361050..9532380hg38UCSC Ensembl
InnerchrX:9329090..9500420hg19UCSC Ensembl
InnerchrX:9289090..9460420hg18UCSC Ensembl
InnerchrX:9138826..9310156hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38171331
hg19171331
hg18171331
hg17171331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758860
Supporting Variantsessv16808, essv1362, essv2653, essv17522, essv15373, essv2859, essv11594, essv12569, essv491, essv18305, essv5361, essv20903, essv15410, essv15986, essv17197, essv6562, essv20296, essv8919, essv11721, essv3216, essv4245, essv19531, essv4761, essv4870, essv21840, essv13844, essv2267, essv13452
SamplesNA19203, NA18621, NA18862, NA18561, NA18603, NA12801, NA19098, NA18967, NA18563, NA19192, NA19171, NA10846, NA12762, NA18966, NA19200, NA19007, NA11839, NA19154, NA12144, NA18974, NA18953, NA18952, NA12864, NA18501, NA19173, NA18854, NA18872, NA18620
Known GenesTBL1X
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758563
Frequency
Sample Size270
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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