A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13526



Internal ID11030760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19025983..19061908hg38UCSC Ensembl
Innerchr17:18929296..18965221hg19UCSC Ensembl
Innerchr17:18870021..18905946hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3835926
hg1935926
hg1835926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25927
Supporting Variantsessv82060, essv65230
SamplesNA19114, NA19240
Known GenesGRAP
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)esv13526
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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