A curated catalogue of human genomic structural variation




Variant Details

Variant: essv32916



Internal ID11367203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43001768..43131884hg38UCSC Ensembl
Innerchr19:43505920..43636036hg19UCSC Ensembl
Innerchr19:48197760..48327876hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38130117
hg19130117
hg18130117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20446
Supporting Variants
SamplesNA19147
Known GenesPSG11, PSG2
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)essv32916
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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