A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19407



Internal ID11383326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130838518..130840609hg38UCSC Ensembl
Innerchr8:131850764..131852855hg19UCSC Ensembl
Innerchr8:131919946..131922037hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382092
hg192092
hg182092
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25237
Supporting Variantsessv78600, essv69108, essv72972, essv79458, essv33431, essv68362, essv75156, essv62011, essv63134, essv44659, essv55130, essv35157, essv64012, essv43977, essv65011, essv70172, essv81412, essv73847, essv37445, essv34846, essv49395, essv83653, essv47681, essv59268, essv59560, essv45412, essv41733, essv53019, essv51594
SamplesNA18502, NA18861, NA18508, NA11931, NA12004, NA19190, NA18916, NA12156, NA12044, NA12489, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129
Known GenesADCY8
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)esv19407
Frequency
Sample Size40
Observed Gain27
Observed Loss2
Observed Complex0
Frequencyn/a


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