A curated catalogue of human genomic structural variation




Variant Details

Variant: essv66657



Internal ID10994836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21505788..21598596hg38UCSC Ensembl
Innerchr16:21517109..21609917hg19UCSC Ensembl
Innerchr16:21424610..21517418hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3892809
hg1992809
hg1892809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20997
Supporting Variants
SamplesNA12828
Known GenesSLC7A5P2
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)essv66657
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