A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20060



Internal ID11037294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46087930..46707405hg38UCSC Ensembl
Innerchr17:44165296..44784771hg19UCSC Ensembl
Innerchr17:41521114..42139954hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38619476
hg19619476
hg18618841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21783
Supporting Variantsessv52074, essv78735, essv74216, essv51327, essv69812, essv56419, essv77663, essv74247, essv80768, essv42850, essv38157
SamplesNA11995, NA11931, NA12004, NA12156, NA12044, NA19257, NA06985, NA18909, NA12749, NA12006, NA12776
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)esv20060
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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