A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24756



Internal ID11041989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113802553..113834906hg38UCSC Ensembl
Innerchr13:114505526..114537879hg19UCSC Ensembl
Innerchr13:113576064..113608417hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3832354
hg1932354
hg1832354
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12598, esv10753, esv12005
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA12776, NA15510, NA12044, NA19147, NA18508, NA12004, NA18916, NA19190, NA07045, NA12239, NA18502, NA18858, NA18909, NA12749, NA19099, NA19225
Known GenesGAS6, GAS6-AS1, TMEM255B
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)esv24756
Frequency
Sample Size40
Observed Gain22
Observed Loss4
Observed Complex0
Frequencyn/a


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