A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11683



Internal ID11375602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:36349364..36356123hg38UCSC Ensembl
Innerchr19:36840266..36847025hg19UCSC Ensembl
Innerchr19:41532106..41538865hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg386760
hg196760
hg186760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26179
Supporting Variantsessv39417, essv52455, essv63979, essv70395, essv81418, essv74269, essv48507, essv78732, essv82883, essv53562, essv68144, essv76993, essv79926, essv54517, essv32584, essv78524, essv46993, essv73441, essv72137, essv36513, essv59350, essv37713, essv36093, essv60932, essv65260, essv75841, essv69371, essv44613, essv50456, essv45536, essv67106
SamplesNA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA12489, NA18907, NA07045, NA19114, NA11894, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA19129, NA12006, NA18511
Known GenesZFP14
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)esv11683
Frequency
Sample Size40
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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