A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19909



Internal ID11383828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126475218..126477261hg38UCSC Ensembl
Innerchr3:126194061..126196104hg19UCSC Ensembl
Innerchr3:127676751..127678794hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382044
hg192044
hg182044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27826
Supporting Variantsessv64662, essv40397
SamplesNA12878, NA07045
Known GenesZXDC
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)esv19909
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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