A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13977



Internal ID11031211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29566686..29568987hg38UCSC Ensembl
Innerchr17:27893704..27896005hg19UCSC Ensembl
Innerchr17:24917830..24920131hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382302
hg192302
hg182302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22811
Supporting Variantsessv77211
SamplesNA18511
Known GenesABHD15, TP53I13
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)esv13977
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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