A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4765



Internal ID9626379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162437290..162719343hg38UCSC Ensembl
Innerchr6:162858322..163140375hg19UCSC Ensembl
Innerchr6:162778312..163060365hg18UCSC Ensembl
Innerchr6:162828733..163110786hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38282054
hg19282054
hg18282054
hg17282054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758091
Supporting Variants
SamplesNA18620
Known GenesPARK2
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)essv4765
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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