A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10893



Internal ID11028127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15855894..15857044hg38UCSC Ensembl
Innerchr16:15949751..15950901hg19UCSC Ensembl
Innerchr16:15857252..15858402hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22836
Supporting Variantsessv47866, essv60762, essv72676, essv36816, essv33627, essv67614, essv66367, essv81543, essv42969, essv39102, essv84014, essv50356, essv36089, essv69799, essv57518, essv58926, essv46282, essv75457, essv79038, essv38755, essv54038, essv48176, essv42330, essv62210, essv70855
SamplesNA18861, NA18508, NA12414, NA19190, NA18916, NA12287, NA12044, NA11993, NA18907, NA19114, NA11894, NA12239, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129
Known GenesMYH11
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)esv10893
Frequency
Sample Size40
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer