A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15526



Internal ID11032760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169257615..169272894hg38UCSC Ensembl
Innerchr1:169226853..169242132hg19UCSC Ensembl
Innerchr1:167493477..167508756hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3815280
hg1915280
hg1815280
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22143
Supporting Variantsessv82583, essv52903, essv65355, essv49888, essv42295, essv46096, essv47532, essv70593, essv55626, essv58037, essv38454, essv52518, essv67918, essv79493, essv33954, essv40840, essv74471, essv32341, essv35630, essv48332, essv77284, essv81755
SamplesNA18502, NA18861, NA18508, NA12004, NA19190, NA18916, NA12878, NA18907, NA19114, NA19099, NA19257, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511
Known GenesNME7
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)esv15526
Frequency
Sample Size40
Observed Gain20
Observed Loss2
Observed Complex0
Frequencyn/a


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