A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758852



Internal ID9634311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50491090..50578979hg38UCSC Ensembl
Innerchr22:50929519..51017408hg19UCSC Ensembl
Innerchr22:49276385..49364274hg18UCSC Ensembl
Innerchr22:49219663..49307552hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3887890
hg1987890
hg1887890
hg1787890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758558
SamplesNA18612
Known GenesCHKB, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, NCAPH2, ODF3B, SCO2, SYCE3, TYMP
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)esv2758852
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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