A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26818



Internal ID11044051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:46634614..46639544hg38UCSC Ensembl
Innerchr12:47028397..47033327hg19UCSC Ensembl
Innerchr12:45314664..45319594hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384931
hg194931
hg184931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19977
SamplesNA18861, NA18511, NA18517, NA19147, NA19129, NA18502, NA18858, NA19225, NA19240
Known Genes
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)esv26818
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