A curated catalogue of human genomic structural variation




Variant Details

Variant: essv57067



Internal ID10981653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:132054506..132060330hg38UCSC Ensembl
Innerchr11:131924400..131930224hg19UCSC Ensembl
Innerchr11:131429610..131435434hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg385825
hg195825
hg185825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18153
Supporting Variants
SamplesNA11993
Known GenesNTM
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)essv57067
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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