A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17051



Internal ID11034285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46752934..46810030hg38UCSC Ensembl
Innerchr3:46794424..46851520hg19UCSC Ensembl
Innerchr3:46769428..46826524hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3857097
hg1957097
hg1857097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26141
Supporting Variantsessv59961, essv58038, essv71943, essv65265, essv38338, essv46884, essv71373, essv54684, essv43424, essv32241, essv34557, essv41294, essv49367
SamplesNA18502, NA18861, NA18916, NA19099, NA19257, NA19225, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505
Known Genes
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)esv17051
Frequency
Sample Size40
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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