A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27253



Internal ID11044486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:96089950..96091125hg38UCSC Ensembl
Innerchr13:96742204..96743379hg19UCSC Ensembl
Innerchr13:95540205..95541380hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381176
hg191176
hg181176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12852
SamplesNA19257, NA19190, NA12156
Known GenesHS6ST3
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)esv27253
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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