A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15859



Internal ID11033093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70689062..70690487hg38UCSC Ensembl
Innerchr10:72448818..72450243hg19UCSC Ensembl
Innerchr10:72118824..72120249hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381426
hg191426
hg181426
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29646
Supporting Variantsessv77707, essv51873, essv66416, essv46125, essv61448, essv69907, essv54095, essv56489, essv64248, essv44467, essv33428, essv47879, essv55085, essv60183, essv49188, essv67443, essv49980, essv42339, essv68862
SamplesNA18861, NA18508, NA12044, NA12828, NA12489, NA07045, NA12239, NA19099, NA06985, NA18523, NA18858, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, NA12776
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)esv15859
Frequency
Sample Size40
Observed Gain17
Observed Loss2
Observed Complex0
Frequencyn/a


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