A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24129



Internal ID11041362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999438..33002246hg38UCSC Ensembl
Innerchr2:33224505..33227313hg19UCSC Ensembl
Innerchr2:33078009..33080817hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382809
hg192809
hg182809
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11386
SamplesNA12489, NA18861, NA07037, NA18523, NA18511, NA12828, NA18517, NA12776, NA19257, NA19108, NA18508, NA18916, NA12006, NA19129, NA06985, NA18858, NA18907, NA18909, NA12749, NA19225
Known GenesLTBP1
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)esv24129
Frequency
Sample Size40
Observed Gain18
Observed Loss2
Observed Complex0
Frequencyn/a


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