A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18837



Internal ID11382756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101906114..101980782hg38UCSC Ensembl
Innerchr15:102446317..102520985hg19UCSC Ensembl
Innerchr15:100263840..100338508hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3874669
hg1974669
hg1874669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27561
Supporting Variantsessv61093, essv42965, essv39723, essv46574, essv48439, essv36649, essv36019, essv56000, essv74368, essv66432, essv34273, essv57202, essv68680, essv58333, essv63349, essv32362, essv53936, essv47675, essv76333, essv81993, essv79341, essv66314, essv80079, essv52534
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA12287, NA12828, NA11993, NA18907, NA19114, NA11894, NA12239, NA15510, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesDDX11L9, FAM138E, LOC100288778, MIR6859-1, MIR6859-2, OR4F4, WASH3P
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)esv18837
Frequency
Sample Size40
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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