A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19060



Internal ID11382979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:107908402..107909020hg38UCSC Ensembl
Innerchr13:108560750..108561368hg19UCSC Ensembl
Innerchr13:107358751..107359369hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29659
Supporting Variantsessv66252, essv36860, essv75239, essv43821, essv69774, essv34514, essv32726, essv68106, essv58161, essv47664, essv48643, essv83455, essv62799, essv54187, essv59911, essv62083, essv50893, essv78804, essv81468
SamplesNA18502, NA18861, NA18508, NA11931, NA12004, NA19190, NA12044, NA19114, NA11894, NA12239, NA15510, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749
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)esv19060
Frequency
Sample Size40
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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