A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21868



Internal ID9620189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:620048..1161361hg38UCSC Ensembl
Innerchr5:620163..1161476hg19UCSC Ensembl
Innerchr5:673163..1214476hg18UCSC Ensembl
Innerchr5:673163..1214476hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38541314
hg19541314
hg18541314
hg17541314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757978
Supporting Variants
SamplesNA11839
Known GenesBRD9, CEP72, LOC100506688, MIR4635, NKD2, SLC12A7, TPPP, TRIP13, ZDHHC11
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)essv21868
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