A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13411



Internal ID11377330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85640106..85664185hg38UCSC Ensembl
Innerchr8:86552335..86576414hg19UCSC Ensembl
Innerchr8:86739587..86763666hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3824080
hg1924080
hg1824080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23169
Supporting Variantsessv63662, essv59698, essv70332, essv37462, essv50850, essv45727, essv34688, essv82623, essv68833, essv67139, essv72503, essv79806, essv76075, essv52830, essv43475, essv42013, essv50468, essv38350, essv59169, essv52220, essv57234, essv65574, essv48685, essv44785, essv40562, essv55547, essv39413, essv81295, essv35311, essv33444
SamplesNA18502, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006
Known GenesREXO1L1, REXO1L2P
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)esv13411
Frequency
Sample Size40
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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