A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13607



Internal ID11377526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240625494..240626614hg38UCSC Ensembl
Innerchr2:241564911..241566031hg19UCSC Ensembl
Innerchr2:241213584..241214704hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29214
Supporting Variantsessv66863, essv51167, essv44629
SamplesNA11931, NA12828, NA12489
Known GenesGPR35
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)esv13607
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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