A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16530



Internal ID11033764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12410994..12420552hg38UCSC Ensembl
Innerchr8:12268503..12278061hg19UCSC Ensembl
Innerchr8:12312874..12322432hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg389559
hg199559
hg189559
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25198
Supporting Variantsessv70474, essv38891, essv82309, essv60523, essv64210, essv46473, essv76444, essv37521
SamplesNA12414, NA18916, NA12287, NA07045, NA19114, NA11894, NA18523, NA19129
Known GenesFAM66A, FAM90A25P
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)esv16530
Frequency
Sample Size40
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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