A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12753



Internal ID9610062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44723285..44814649hg38UCSC Ensembl
Innerchr22:45119165..45210529hg19UCSC Ensembl
Innerchr22:43497829..43589193hg18UCSC Ensembl
Innerchr22:43439702..43531066hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3891365
hg1991365
hg1891365
hg1791365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758550
Supporting Variants
SamplesNA18914
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)essv12753
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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