A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16948



Internal ID11380867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88978905..89040511hg38UCSC Ensembl
Innerchr2:89278424..89340008hg19UCSC Ensembl
Innerchr2:89059539..89121123hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3861607
hg1961585
hg1861585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29894
Supporting Variantsessv59392, essv54434, essv63887, essv40201, essv68754, essv75714, essv83751, essv74470, essv35118, essv43982, essv65503, essv46784
SamplesNA18861, NA12414, NA12004, NA19190, NA12878, NA18907, NA07045, NA19099, NA18858, NA18909, NA19108, NA19240
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)esv16948
Frequency
Sample Size40
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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