A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12727



Internal ID11376646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18920273..18944273hg38UCSC Ensembl
Innerchr11:18941820..18965820hg19UCSC Ensembl
Innerchr11:18898396..18922396hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3824001
hg1924001
hg1824001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27702
Supporting Variantsessv73493, essv44306, essv55999, essv67400, essv62065, essv80350, essv64038, essv39548, essv37020, essv67890, essv49917, essv51987, essv78798, essv38680, essv34211, essv46379, essv81122, essv35358, essv51410, essv59043, essv71625, essv84153, essv77641, essv65759, essv47622, essv55324, essv77184, essv56995, essv75581, essv53597, essv42802, essv40206
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18858, NA18909, NA19108, NA18517, NA19240, NA12749, NA19129, NA12006, NA18511, NA12776
Known GenesMRGPRX1
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)esv12727
Frequency
Sample Size40
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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