A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16093



Internal ID11033327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3653645..3654759hg38UCSC Ensembl
Innerchr11:3674875..3675989hg19UCSC Ensembl
Innerchr11:3631451..3632565hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381115
hg191115
hg181115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28322
Supporting Variantsessv73015, essv34572, essv70939, essv32323, essv43265, essv53873, essv76668, essv35097, essv57595, essv55391, essv68829, essv38645, essv75017, essv49711, essv41902, essv60947, essv45683
SamplesNA18502, NA18508, NA12004, NA18916, NA11993, NA18907, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA18517, NA18505, NA19129, NA18511
Known GenesART1
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)esv16093
Frequency
Sample Size40
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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