A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12154



Internal ID11029388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:60070..243098hg38UCSC Ensembl
Innerchr19:60070..243098hg19UCSC Ensembl
Innerchr19:11070..194098hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38183029
hg19183029
hg18183029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22059
Supporting Variantsessv60921, essv41940
SamplesNA18523, NA18505
Known GenesFAM138A, FAM138F, LINC01002, OR4F17, WASH5P
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)esv12154
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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