A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2192



Internal ID9620247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:141395438..142972397hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg171576960
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA18960
Known Genes
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)essv2192
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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