A curated catalogue of human genomic structural variation




Variant Details

Variant: essv36724



Internal ID10979802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..79081hg38UCSC Ensembl
Innerchr12:147109..188247hg19UCSC Ensembl
Innerchr12:17370..58508hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3834081
hg1941139
hg1841139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11271
Supporting Variants
SamplesNA11894
Known GenesFAM138D, IQSEC3
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)essv36724
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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