A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14110



Internal ID11378029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7342910..7617059hg38UCSC Ensembl
Innerchr8:7200432..7474581hg19UCSC Ensembl
Innerchr8:7187842..7461991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38274150
hg19274150
hg18274150
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21583
Supporting Variantsessv45989, essv57516, essv32963, essv67328, essv36511, essv41771, essv48748, essv47798, essv65023, essv43327, essv73295, essv37765, essv36382, essv54453, essv81701, essv34703, essv49863
SamplesNA18502, NA18861, NA12156, NA12828, NA11993, NA18907, NA19114, NA11894, NA19099, NA19257, NA18909, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, ZNF705G
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)esv14110
Frequency
Sample Size40
Observed Gain15
Observed Loss2
Observed Complex0
Frequencyn/a


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