A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16233



Internal ID11380152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46526513..46787945hg38UCSC Ensembl
Innerchr10:46761650..47058494hg19UCSC Ensembl
Innerchr10:46181656..46478500hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38261433
hg19296845
hg18296845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22204
Supporting Variantsessv69589, essv33707
SamplesNA12044, NA19147
Known GenesBMS1P1, BMS1P5, FAM35BP, GLUD1P7, GPRIN2, SYT15
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)esv16233
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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