A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24498



Internal ID11041731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82345059..82390941hg38UCSC Ensembl
Innerchr15:82629009..82683152hg19UCSC Ensembl
Innerchr15:80416064..80470207hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3845883
hg1954144
hg1854144
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12588, esv19352, esv13042, esv19566, esv12982
SamplesNA18861, NA19190, NA18916, NA12044, NA12489, NA12878, NA11894, NA19257, NA19225, NA18858, NA18909, NA19108, NA07037, NA12749, NA19129, NA12776
Known GenesGOLGA6L10, UBE2Q2P2, UBE2Q2P3
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)esv24498
Frequency
Sample Size40
Observed Gain12
Observed Loss5
Observed Complex0
Frequencyn/a


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