A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17306



Internal ID11381225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6069126..6071060hg38UCSC Ensembl
Innerchr17:5972446..5974380hg19UCSC Ensembl
Innerchr17:5913170..5915104hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381935
hg191935
hg181935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26217
Supporting Variantsessv77411, essv64645
SamplesNA07045, NA18511
Known GenesWSCD1
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)esv17306
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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