A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26079



Internal ID11043312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60073..220197hg38UCSC Ensembl
Innerchr8:10073..170197hg19UCSC Ensembl
Innerchr8:73..160197hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38160125
hg19160125
hg18160125
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11179, esv9891, esv10457, esv17124, esv20436, esv13282, esv21312, esv20245, esv10565, esv15982, esv10188
SamplesNA18502, NA11995, NA18508, NA12414, NA12004, NA19190, NA12287, NA12828, NA11993, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA18517, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesOR4F21, RPL23AP53
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)esv26079
Frequency
Sample Size40
Observed Gain22
Observed Loss14
Observed Complex0
Frequencyn/a


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