A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20748



Internal ID11037982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31072087..31200891hg38UCSC Ensembl
Innerchr12:31225021..31353825hg19UCSC Ensembl
Innerchr12:31116288..31245092hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38128805
hg19128805
hg18128805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22975
Supporting Variantsessv42169, essv76929, essv65372, essv60309, essv42770, essv53499, essv72001, essv46498, essv73788, essv34059, essv55135, essv77755, essv61998, essv58082, essv49992, essv46984, essv49131, essv81192, essv63864, essv83240, essv80195, essv62876, essv74436, essv32546, essv70405, essv79432, essv35110, essv52273, essv76133, essv57478, essv44160
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12156, NA11993, NA12489, NA18907, NA07045, NA19114, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511
Known GenesDDX11, DDX11-AS1
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)esv20748
Frequency
Sample Size40
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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