A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12212



Internal ID11029446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8171248..8230820hg38UCSC Ensembl
Innerchr8:8028770..8088342hg19UCSC Ensembl
Innerchr8:8066180..8125752hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3859573
hg1959573
hg1859573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25631
Supporting Variantsessv36687, essv32949
SamplesNA19147, NA11894
Known GenesFAM86B3P
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)esv12212
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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