A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19897



Internal ID11383816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:22496558..22502831hg38UCSC Ensembl
Innerchr9:22496557..22502830hg19UCSC Ensembl
Innerchr9:22486557..22492830hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg386274
hg196274
hg186274
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24263
Supporting Variantsessv79345, essv39160, essv51676, essv81267, essv82650, essv55125, essv40207, essv51299, essv72437, essv32331, essv34416, essv68415, essv69315, essv35961, essv75316, essv41736, essv62031, essv53212, essv42749, essv37223, essv57243, essv66160, essv50308, essv46359, essv60074, essv47543, essv58634
SamplesNA18502, NA18861, NA18508, NA11931, NA12004, NA19190, NA12287, NA12044, NA11993, NA12878, NA18907, NA19114, NA11894, NA12239, NA19099, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006
Known Genes
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)esv19897
Frequency
Sample Size40
Observed Gain21
Observed Loss6
Observed Complex0
Frequencyn/a


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