A curated catalogue of human genomic structural variation




Variant Details

Variant: essv47146



Internal ID11008153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233739513..233749839hg38UCSC Ensembl
Innerchr2:234648159..234658485hg19UCSC Ensembl
Innerchr2:234312898..234323224hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810327
hg1910327
hg1810327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16620
Supporting Variants
SamplesNA18861
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)essv47146
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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