A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759342



Internal ID9634801
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 StatusM
Merged Variants
Supporting Variantsesv2757995
SamplesNA10831, NA18976
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)esv2759342
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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