A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17209



Internal ID11034443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:60070..172370hg38UCSC Ensembl
Innerchr19:60070..172370hg19UCSC Ensembl
Innerchr19:11070..123370hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38112301
hg19112301
hg18112301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22059
Supporting Variantsessv39908, essv82902, essv79404, essv35970, essv74417, essv62424, essv55269, essv76398, essv47041, essv80850, essv43764, essv65971, essv49092, essv70494, essv62135, essv56696, essv33843, essv53913, essv46268, essv68207, essv81886, essv78019, essv58223, essv51533, essv33642, essv57171, essv51827, essv66948, essv37007
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12828, NA11993, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesFAM138A, FAM138F, OR4F17, WASH5P
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)esv17209
Frequency
Sample Size40
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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