A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29646



Internal ID11046879
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15859, esv17037
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA19147, NA18508, NA11894, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA19099, NA19240
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)esv29646
Frequency
Sample Size40
Observed Gain28
Observed Loss2
Observed Complex0
Frequencyn/a


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