A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24490



Internal ID9623103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16421177..17108753hg38UCSC Ensembl
Innerchr8:16278686..16966262hg19UCSC Ensembl
Innerchr8:16323057..17010633hg18UCSC Ensembl
Innerchr8:16323057..17010633hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38687577
hg19687577
hg18687577
hg17687577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758150
Supporting Variants
SamplesNA12802
Known GenesFGF20, MICU3
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)essv24490
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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