A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19446



Internal ID11383365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:303497..304246hg38UCSC Ensembl
Innerchr17:153288..154037hg19UCSC Ensembl
Innerchr17:153288..154037hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27547
Supporting Variantsessv59841, essv36340, essv33684, essv67357, essv39083, essv73232, essv77664, essv41917, essv75560, essv46586, essv79714, essv50929, essv39987, essv82291, essv69071, essv57664
SamplesNA12414, NA11931, NA12287, NA12156, NA12044, NA12828, NA11993, NA12878, NA18907, NA19114, NA06985, NA18523, NA19147, NA12749, NA18505, NA19129
Known GenesRPH3AL
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)esv19446
Frequency
Sample Size40
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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