A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17517



Internal ID9615355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18069029..18944163hg38UCSC Ensembl
Innerchr22:18551795..18931676hg19UCSC Ensembl
Innerchr22:16931795..17311676hg18UCSC Ensembl
Innerchr22:16926349..17306230hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38875135
hg19379882
hg18379882
hg17379882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758535
Supporting Variants
SamplesNA12762
Known GenesDGCR6, GGT3P, PEX26, PRODH, TUBA8, USP18
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)essv17517
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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