A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758541



Internal ID9634000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33472959..33513560hg38UCSC Ensembl
Innerchr22:33868945..33909546hg19UCSC Ensembl
Innerchr22:32198945..32239546hg18UCSC Ensembl
Innerchr22:32193499..32234100hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840602
hg1940602
hg1840602
hg1740602
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758832
Supporting Variantsessv17769, essv10751, essv3404, essv22926, essv538, essv11266, essv18262, essv3269, essv24934, essv5539, essv11618
SamplesNA18998, NA19204, NA07357, NA10846, NA10831, NA18529, NA19154, NA18523, NA18945, NA06994, NA18972
Known GenesLARGE
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)esv2758541
Frequency
Sample Size270
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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