A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19946



Internal ID11037180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33539406..33542626hg38UCSC Ensembl
Innerchr2:33764473..33767693hg19UCSC Ensembl
Innerchr2:33617977..33621197hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383221
hg193221
hg183221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28690
Supporting Variantsessv52755, essv67666, essv78866, essv48104, essv40292, essv77041, essv80715, essv66633, essv82055, essv62035, essv70916, essv51027, essv41230, essv49142, essv59763, essv34578, essv42999, essv77797, essv32895, essv35995, essv58155, essv38542, essv44158, essv62607, essv65499, essv76295, essv57045, essv83564, essv52473, essv54751, essv71969
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA19257, NA19108, NA15510, NA18505, NA19147, NA12414, NA18508, NA11995, NA18916, NA19190, NA12006, NA12239, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesRASGRP3
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)esv19946
Frequency
Sample Size40
Observed Gain30
Observed Loss1
Observed Complex0
Frequencyn/a


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