A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17817



Internal ID9615688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32111694..32694378hg38UCSC Ensembl
Innerchr15:32403895..32986579hg19UCSC Ensembl
Innerchr15:30191187..30773871hg18UCSC Ensembl
Innerchr15:30191187..30773871hg17UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38582685
hg19582685
hg18582685
hg17582685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758375
Supporting Variants
SamplesNA10831
Known GenesARHGAP11A, CHRNA7, GOLGA8K, GOLGA8O, GOLGA8R, LOC100996255, SCG5, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
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)essv17817
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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