A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11120



Internal ID11028354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19025107..19238137hg38UCSC Ensembl
Innerchr17:18928420..19141450hg19UCSC Ensembl
Innerchr17:18869145..19082043hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38213031
hg19213031
hg18212899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25927
Supporting Variantsessv80037, essv34771, essv76893, essv33413, essv39936, essv64021, essv53280, essv67185, essv47662, essv50409, essv57986, essv77622
SamplesNA18502, NA11995, NA18861, NA18508, NA12287, NA12828, NA07045, NA06985, NA19108, NA19147, NA18517, NA18511
Known GenesEPN2, GRAP, GRAPL
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)esv11120
Frequency
Sample Size40
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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