A curated catalogue of human genomic structural variation




Variant Details

Variant: essv32877



Internal ID11020556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10485..48710hg38UCSC Ensembl
Innerchr9:10485..48710hg19UCSC Ensembl
Innerchr9:485..38710hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3838226
hg1938226
hg1838226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19929
Supporting Variants
SamplesNA19147
Known GenesDDX11L5, FAM138C, WASH1
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)essv32877
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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