A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18214



Internal ID11035448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573641..45628618hg38UCSC Ensembl
Innerchr17:43651007..43705984hg19UCSC Ensembl
Innerchr17:41006790..41061767hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3854978
hg1954978
hg1854978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26189
Supporting Variantsessv77490, essv73633, essv79919, essv66649, essv64671, essv40827, essv51379, essv57295, essv52123
SamplesNA11995, NA11931, NA12156, NA12828, NA11993, NA12878, NA07045, NA06985, NA12006
Known GenesCRHR1, LOC644172, MGC57346
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)esv18214
Frequency
Sample Size40
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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