A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15929



Internal ID11379848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:61822179..61854025hg38UCSC Ensembl
Innerchr9:44958331..44990177hg19UCSC Ensembl
Innerchr9:44898327..44930173hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3831847
hg1931847
hg1831847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21770
Supporting Variantsessv63934, essv63417, essv45307, essv65886
SamplesNA07045, NA15510, NA19240, NA19129
Known Genes
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)esv15929
Frequency
Sample Size40
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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