A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18809



Internal ID11382728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137888942..137890902hg38UCSC Ensembl
Innerchr9:140783394..140785354hg19UCSC Ensembl
Innerchr9:139903215..139905175hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381961
hg191961
hg181961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26628
Supporting Variantsessv33619, essv51864, essv83345, essv34903, essv35793, essv77279, essv59579, essv79569, essv54985, essv42768, essv69982, essv79939, essv51644, essv48009, essv70317, essv66556, essv38124, essv67546, essv65713, essv62186, essv41630, essv75157, essv62497, essv82519, essv55751, essv72068, essv50330, essv45723, essv53660
SamplesNA18502, NA11995, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12044, NA12828, NA18907, NA19114, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesCACNA1B
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)esv18809
Frequency
Sample Size40
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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