A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14819



Internal ID11378738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206141171..206268616hg38UCSC Ensembl
Innerchr1:206072736..206200159hg19UCSC Ensembl
Innerchr1:204239359..204366782hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38127446
hg19127424
hg18127424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26345
Supporting Variantsessv65831, essv73401, essv76736, essv71596, essv67998, essv73117, essv40188, essv35119, essv63479, essv83701, essv75386, essv48585, essv41895, essv33470, essv56448, essv33862, essv60565, essv58707, essv38867, essv47421, essv45952
SamplesNA18502, NA18861, NA12414, NA19190, NA18916, NA12156, NA12878, NA18907, NA15510, NA19257, NA19225, NA18523, NA18858, NA19108, NA19147, NA19240, NA07037, NA18505, NA19129, NA18511, NA12776
Known GenesFAM72A
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)esv14819
Frequency
Sample Size40
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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