A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24583



Internal ID11041816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73658878..73736569hg38UCSC Ensembl
Innerchr10:75418636..75496327hg19UCSC Ensembl
Innerchr10:75088642..75166333hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3877692
hg1977692
hg1877692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15392, esv17272
SamplesNA12878, NA07045
Known GenesAGAP5, BMS1P4, GLUD1P3
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)esv24583
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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