A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16967



Internal ID11380886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57202314..57222109hg38UCSC Ensembl
Innerchr8:58114873..58134668hg19UCSC Ensembl
Innerchr8:58277427..58297222hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3819796
hg1919796
hg1819796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25719
Supporting Variantsessv45542, essv81013, essv39765, essv41588, essv51436, essv72394, essv75377, essv59127, essv46967, essv33145, essv83250, essv53263, essv40006, essv60593, essv66963, essv66172, essv71258, essv69788, essv62366
SamplesNA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12044, NA12828, NA12878, NA15510, NA19225, NA18523, NA19108, NA19147, NA19240, NA18505, NA19129
Known GenesLOC100507651
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)esv16967
Frequency
Sample Size40
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer