A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18582



Internal ID11035816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:153311410..153313538hg38UCSC Ensembl
Innerchr4:154232562..154234690hg19UCSC Ensembl
Innerchr4:154452012..154454140hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382129
hg192129
hg182129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28591
Supporting Variantsessv54346, essv45876
SamplesNA19129, NA19099
Known GenesTRIM2
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)esv18582
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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