A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19114



Internal ID11036348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69897663..69898423hg38UCSC Ensembl
Innerchr2:70124795..70125555hg19UCSC Ensembl
Innerchr2:69978299..69979059hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38761
hg19761
hg18761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26099
Supporting Variantsessv48079, essv38365, essv44917, essv63807, essv36537, essv39203, essv70961, essv50237, essv34957, essv69630, essv57944, essv41738, essv42696, essv72748, essv54653, essv46109, essv51712, essv62614, essv77590
SamplesNA18502, NA18861, NA18916, NA12287, NA12044, NA11993, NA12489, NA07045, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18909, NA18517, NA18505, NA19129, NA12006
Known GenesSNRNP27
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)esv19114
Frequency
Sample Size40
Observed Gain3
Observed Loss16
Observed Complex0
Frequencyn/a


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