A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24883



Internal ID11042116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1459094..1460909hg38UCSC Ensembl
Innerchr10:1501289..1503104hg19UCSC Ensembl
Innerchr10:1491289..1493104hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381816
hg191816
hg181816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15663
SamplesNA07037, NA18523, NA11931, NA11894, NA18916, NA19190, NA12006, NA12878, NA19240
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)esv24883
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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