A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758150



Internal ID9633609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16330049..17108753hg38UCSC Ensembl
Innerchr8:16187558..16966262hg19UCSC Ensembl
Innerchr8:16231929..17010633hg18UCSC Ensembl
Innerchr8:16231929..17010633hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38778705
hg19778705
hg18778705
hg17778705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759599
Supporting Variantsessv24490, essv23895
SamplesNA12814, NA12802
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)esv2758150
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer