A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21283



Internal ID11385202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:90378972..90400297hg38UCSC Ensembl
Innerchr2:91595228..91616553hg19UCSC Ensembl
Innerchr2:90958955..90980280hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3821326
hg1921326
hg1821326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24566
Supporting Variantsessv45762, essv48849, essv53878, essv60407, essv49902, essv79130, essv44844, essv36715, essv67351, essv42784, essv32421, essv80148, essv64751, essv42308, essv38430, essv76597, essv52445, essv36414, essv61727, essv69656, essv57549, essv70756, essv56310
SamplesNA11995, NA18508, NA18916, NA12044, NA12828, NA11993, NA12489, NA18907, NA07045, NA11894, NA12239, NA19257, NA18523, NA18909, NA19147, NA18517, NA07037, 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)esv21283
Frequency
Sample Size40
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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