A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12847



Internal ID11376766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1950484..1951641hg38UCSC Ensembl
Innerchr19:1950483..1951640hg19UCSC Ensembl
Innerchr19:1901483..1902640hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381158
hg191158
hg181158
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26747
Supporting Variantsessv70768, essv45289, essv43456, essv67937, essv61214, essv75490, essv80663
SamplesNA11995, NA12414, NA18916, NA12239, NA18858, NA18909, NA19129
Known GenesCSNK1G2
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)esv12847
Frequency
Sample Size40
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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