A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14323



Internal ID11378242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128685220..128695356hg38UCSC Ensembl
Innerchr3:128404063..128414199hg19UCSC Ensembl
Innerchr3:129886753..129896889hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3810137
hg1910137
hg1810137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24393
Supporting Variantsessv81088, essv75590, essv34500, essv39856, essv62305, essv41108, essv61833, essv41187, essv72472, essv51559, essv57932, essv70103, essv79471, essv32871, essv54373, essv82782, essv65479, essv56691, essv68057, essv42730, essv59085, essv53645, essv50293, essv64359, essv45632, essv60652, essv47008, essv38362, essv35396, essv45068, essv48909
SamplesNA18502, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12776
Known Genes
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)esv14323
Frequency
Sample Size40
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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