A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16569



Internal ID11380488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1069947..1073337hg38UCSC Ensembl
Innerchr5:1070062..1073452hg19UCSC Ensembl
Innerchr5:1123062..1126452hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383391
hg193391
hg183391
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27870
Supporting Variantsessv80854, essv76930, essv62216, essv55583, essv59995, essv37989, essv46841, essv34654, essv35675, essv79547, essv33054, essv42498, essv65074, essv62586, essv53419, essv39310, essv59245, essv49156, essv45222, essv43117, essv73121, essv52282, essv44547, essv82817, essv74148, essv75842, essv64694
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA19190, NA12287, NA12156, NA12489, NA18907, NA07045, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511
Known GenesSLC12A7
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)esv16569
Frequency
Sample Size40
Observed Gain26
Observed Loss1
Observed Complex0
Frequencyn/a


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