A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14558



Internal ID11378477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176358457..176359596hg38UCSC Ensembl
Innerchr3:176076245..176077384hg19UCSC Ensembl
Innerchr3:177558939..177560078hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg381140
hg191140
hg181140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27907
Supporting Variantsessv53093, essv38715, essv41678
SamplesNA18508, NA19257, NA18505
Known Genes
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)esv14558
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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