A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12555



Internal ID11376474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515606..76547744hg38UCSC Ensembl
Innerchr7:76144923..76177061hg19UCSC Ensembl
Innerchr7:75982859..76014997hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3832139
hg1932139
hg1832139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23975
Supporting Variantsessv81400, essv36902, essv40575, essv42127, essv82802, essv72055, essv32768, essv66341, essv47077, essv57962, essv79564
SamplesNA18861, NA19190, NA12878, NA19114, NA11894, NA19225, NA19108, NA19147, NA19240, NA12749, NA18505
Known GenesUPK3B
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv12555
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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