A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16188



Internal ID11033422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46489446..46575153hg38UCSC Ensembl
Innerchr17:44566812..44652519hg19UCSC Ensembl
Innerchr17:41922128..42007835hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3885708
hg1985708
hg1885708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21783
Supporting Variantsessv48370, essv40453, essv61901, essv39128, essv57333, essv37553
SamplesNA12287, NA11993, NA12878, NA11894, NA12239, NA07037
Known GenesARL17A, ARL17B, LRRC37A2
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)esv16188
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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