A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19941



Internal ID11383860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:35372372..35375252hg38UCSC Ensembl
Innerchr9:35372369..35375249hg19UCSC Ensembl
Innerchr9:35362369..35365249hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg382881
hg192881
hg182881
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24160
Supporting Variantsessv51880, essv68507, essv57891, essv33088, essv71692, essv80882, essv79334, essv73803, essv62947, essv40444, essv43291, essv77995, essv51561, essv45445, essv38948, essv56725, essv53651, essv44668, essv82858
SamplesNA11995, NA18508, NA11931, NA19190, NA12287, NA12156, NA11993, NA12489, NA12878, NA15510, NA19225, NA06985, NA18858, NA18909, NA19147, NA12749, NA19129, NA12006, NA12776
Known GenesUNC13B
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)esv19941
Frequency
Sample Size40
Observed Gain16
Observed Loss3
Observed Complex0
Frequencyn/a


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