A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13400



Internal ID11377319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158757070..158758300hg38UCSC Ensembl
Innerchr1:158726860..158728090hg19UCSC Ensembl
Innerchr1:156993484..156994714hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381231
hg191231
hg181231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29669
Supporting Variantsessv33189, essv45013, essv66494, essv39886, essv63010, essv59297, essv40192, essv36020, essv52316, essv43597, essv49687, essv45320, essv65938, essv56036, essv76825, essv52816, essv56909, essv62051, essv55369, essv78978, essv41742, essv78446, essv76377, essv70314, essv60182, essv71916
SamplesNA18508, NA12414, NA18916, NA12287, NA12828, NA11993, NA12489, NA12878, NA18907, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
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)esv13400
Frequency
Sample Size40
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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