A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13484



Internal ID11377403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:90159493..90235603hg38UCSC Ensembl
Innerchr2:90198348..90274470hg19UCSC Ensembl
Innerchr2:89835653..89911775hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3876111
hg1976123
hg1876123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21923
Supporting Variantsessv81446, essv42949, essv39174, essv75269, essv58344, essv37753, essv55608, essv83242, essv77445, essv52215, essv63564, essv47666, essv80575, essv44736, essv35762, essv66308, essv67770, essv71886, essv41096, essv76294, essv53255, essv78387
SamplesNA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA12287, NA12489, NA12878, NA18907, NA07045, NA19114, NA19099, NA19257, NA19225, NA06985, NA18858, NA18909, NA19108, NA19240, NA12006, NA18511
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)esv13484
Frequency
Sample Size40
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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