A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11043



Internal ID11028277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178431476..178432258hg38UCSC Ensembl
Innerchr2:179296203..179296985hg19UCSC Ensembl
Innerchr2:179004449..179005231hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38783
hg19783
hg18783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24835
Supporting Variantsessv74344, essv77905, essv37831, essv54005, essv71163, essv67543, essv80445, essv50949, essv49729, essv66375, essv45713, essv72067, essv62226, essv59705, essv69923, essv43548, essv82559, essv57532, essv47025, essv37501
SamplesNA11995, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12044, NA11993, NA11894, NA15510, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA18517, NA19240, NA19129
Known GenesMIR548N, PRKRA
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)esv11043
Frequency
Sample Size40
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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