A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28979



Internal ID11046212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16491595..16492391hg38UCSC Ensembl
Innerchr17:16394909..16395705hg19UCSC Ensembl
Innerchr17:16335634..16336430hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20869
SamplesNA07045
Known GenesFAM211A
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)esv28979
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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