A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10451



Internal ID9962394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167632859..167783800hg38UCSC Ensembl
Innerchr2:168489369..168640310hg19UCSC Ensembl
Innerchr2:168197615..168348556hg18UCSC Ensembl
Innerchr2:168314876..168465817hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38150942
hg19150942
hg18150942
hg17150942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757840
Supporting Variants
SamplesNA18515
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)essv10451
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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