A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25831



Internal ID11043064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1699176..1701985hg38UCSC Ensembl
Innerchr10:1741370..1744179hg19UCSC Ensembl
Innerchr10:1731370..1734179hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg382810
hg192810
hg182810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9815
SamplesNA12489, NA18861, NA18511, NA12776, NA19257, NA12287, NA18508, NA11995, NA18916, NA19129, NA06985, NA18909, NA19225
Known GenesADARB2
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)esv25831
Frequency
Sample Size40
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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