A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15358



Internal ID11032592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19733860hg38UCSC Ensembl
Innerchr14:19780325..20202019hg19UCSC Ensembl
Innerchr14:18850325..19271859hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38502912
hg19421695
hg18421535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23873
Supporting Variantsessv35883, essv47878, essv83709, essv45898, essv81062, essv68027, essv34330, essv43613, essv69274
SamplesNA18502, NA11995, NA18861, NA19190, NA12044, NA18907, NA18858, NA18909, NA19129
Known GenesBMS1P17, BMS1P18, OR11H2, POTEM
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)esv15358
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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