A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1903



Internal ID9617036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50452518..50762348hg38UCSC Ensembl
Innerchr5:49748352..50058182hg19UCSC Ensembl
Innerchr5:49784109..50093939hg18UCSC Ensembl
Innerchr5:49784109..50093939hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38309831
hg19309831
hg18309831
hg17309831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757995
Supporting Variants
SamplesNA18976
Known GenesPARP8
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)essv1903
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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