A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28860



Internal ID11046093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72060960..72102947hg38UCSC Ensembl
Innerchr15:72353301..72395288hg19UCSC Ensembl
Innerchr15:70140355..70182342hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3841988
hg1941988
hg1841988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14544, esv11550
SamplesNA12489, NA18861, NA18523, NA19114, NA18511, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12287, NA19147, NA18508, NA11894, NA11995, NA18916, NA19190, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesMYO9A
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)esv28860
Frequency
Sample Size40
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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