A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12707



Internal ID11029941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49846051..49847886hg38UCSC Ensembl
Innerchr17:47923413..47925248hg19UCSC Ensembl
Innerchr17:45278412..45280247hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381836
hg191836
hg181836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25474
Supporting Variantsessv41967, essv75418, essv70408, essv65138, essv56719
SamplesNA12414, NA18916, NA19240, NA18505, NA12776
Known GenesFLJ45513, TAC4
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)esv12707
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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