A curated catalogue of human genomic structural variation




Variant Details

Variant: essv33524



Internal ID11366595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62251528..62277193hg38UCSC Ensembl
Innerchr17:60328889..60354554hg19UCSC Ensembl
Innerchr17:57683671..57709336hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3825666
hg1925666
hg1825666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19625
Supporting Variants
SamplesNA19147
Known GenesTBC1D3P2
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)essv33524
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