A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17037



Internal ID11034271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70689062..70691545hg38UCSC Ensembl
Innerchr10:72448818..72451301hg19UCSC Ensembl
Innerchr10:72118824..72121307hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382484
hg192484
hg182484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29646
Supporting Variantsessv42913, essv33715, essv82491, essv58774, essv35393, essv83146, essv70654, essv38642, essv37401, essv62933, essv50981
SamplesNA18502, NA11931, NA19190, NA18916, NA18907, NA19114, NA11894, NA15510, NA19257, NA18909, NA19108
Known GenesADAMTS14
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)esv17037
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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