A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16708



Internal ID11380627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:28985603..28991179hg38UCSC Ensembl
Innerchr11:29007150..29012726hg19UCSC Ensembl
Innerchr11:28963726..28969302hg18UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg385577
hg195577
hg185577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22361
Supporting Variantsessv75265, essv65666, essv60675, essv52671, essv70668, essv35294, essv72297, essv50113, essv79137, essv38325, essv52804, essv76667, essv67533, essv45722, essv42423, essv39641, essv61276, essv76173, essv54739, essv57272, essv84132, essv81331, essv47780, essv80455, essv56517, essv43684, essv74029, essv66862, essv44062
SamplesNA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA18907, NA19114, NA12239, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006, NA18511, 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)esv16708
Frequency
Sample Size40
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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