A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22892



Internal ID11040125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75546562..75547132hg38UCSC Ensembl
Innerchr17:73542643..73543213hg19UCSC Ensembl
Innerchr17:71054238..71054808hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38571
hg19571
hg18571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10128
SamplesNA07037, NA19114, NA12828, NA19257, NA18505, NA12044, NA12239, NA19099
Known GenesLLGL2
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)esv22892
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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