A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6404



Internal ID9628201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223993894..224175461hg38UCSC Ensembl
Innerchr1:224181596..224363163hg19UCSC Ensembl
Innerchr1:222248219..222429786hg18UCSC Ensembl
Innerchr1:220488331..220669898hg17UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38181568
hg19181568
hg18181568
hg17181568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757772
Supporting Variants
SamplesNA18572
Known GenesFBXO28
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)essv6404
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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