A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22518



Internal ID11386437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19794789..20504928hg38UCSC Ensembl
Innerchr15:20000042..20710181hg19UCSC Ensembl
Innerchr15:18260050..18970195hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38710140
hg19710140
hg18710146
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18708, esv18294, esv18369, esv16468, esv9795, esv15588, esv16214, esv20222, esv20076, esv19141, esv17112, esv10443, esv17125, esv15754, esv15456, esv20601, esv14655, esv12386, esv13706, esv13922, esv13680, esv21404, esv21409, esv12363, esv19127, esv13459, esv10849, esv21158, esv21232
SamplesNA18502, NA11995, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesCHEK2P2, HERC2P3
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)esv22518
Frequency
Sample Size40
Observed Gain26
Observed Loss22
Observed Complex0
Frequencyn/a


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