A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17720



Internal ID11034954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:96330274..96331474hg38UCSC Ensembl
Innerchr15:96873503..96874703hg19UCSC Ensembl
Innerchr15:94674507..94675707hg18UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21861
Supporting Variantsessv64562, essv77003
SamplesNA07045, NA18511
Known GenesNR2F2
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)esv17720
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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