A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758842



Internal ID9634301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44630924..44814649hg38UCSC Ensembl
Innerchr22:45026804..45210529hg19UCSC Ensembl
Innerchr22:43405468..43589193hg18UCSC Ensembl
Innerchr22:43347341..43531066hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38183726
hg19183726
hg18183726
hg17183726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758550
SamplesNA18914, NA18516, NA18862, NA19161, NA18504, NA19116
Known GenesARHGAP8, PRR5, PRR5-ARHGAP8
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)esv2758842
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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