A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4686



Internal ID9626291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196723718..196986100hg38UCSC Ensembl
Innerchr1:196692848..196955230hg19UCSC Ensembl
Innerchr1:194959471..195221853hg18UCSC Ensembl
Innerchr1:193424505..193686887hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38262383
hg19262383
hg18262383
hg17262383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757766
Supporting Variants
SamplesNA18622
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5
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)essv4686
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