A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13074



Internal ID11030308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5122514..5144862hg38UCSC Ensembl
Innerchr17:5025809..5048157hg19UCSC Ensembl
Innerchr17:4966533..4988881hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3822349
hg1922349
hg1822349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25210
Supporting Variantsessv65221, essv47312, essv42103, essv34303, essv82547, essv59524, essv71660, essv38663, essv59262, essv33630, essv68213, essv77355, essv49939, essv36437, essv45845
SamplesNA18502, NA18861, NA18907, NA19114, NA19257, NA19225, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129, NA18511
Known GenesUSP6, ZNF232
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)esv13074
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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