A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24927



Internal ID11042160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:98238237..98239323hg38UCSC Ensembl
Innerchr9:101000519..101001605hg19UCSC Ensembl
Innerchr9:100040340..100041426hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381087
hg191087
hg181087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16900, esv15525
SamplesNA12489, NA18861, NA18511, NA18505, NA18916, NA19190, NA19129, NA19099, NA19225
Known GenesTBC1D2
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)esv24927
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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