A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758833



Internal ID9634292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33773808..33807492hg38UCSC Ensembl
Innerchr22:34169795..34203479hg19UCSC Ensembl
Innerchr22:32499795..32533479hg18UCSC Ensembl
Innerchr22:32494349..32528033hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3833685
hg1933685
hg1833685
hg1733685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758542
SamplesNA18999
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)esv2758833
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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