A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14252



Internal ID11378171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91347381..91349183hg38UCSC Ensembl
Innerchr13:91999635..92001437hg19UCSC Ensembl
Innerchr13:90797636..90799438hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg381803
hg191803
hg181803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28603
Supporting Variantsessv82890, essv64181, essv79419, essv73452, essv37846
SamplesNA19190, NA12156, NA07045, NA19257, NA12749
Known GenesMIR17HG
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)esv14252
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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