A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26630



Internal ID11043863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54728244..54867750hg38UCSC Ensembl
Innerchr19:55239710..55379205hg19UCSC Ensembl
Innerchr19:59931522..60071017hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38139507
hg19139496
hg18139496
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv9800, esv14841, esv12040, esv10719, esv18546, esv17863, esv12313, esv11708, esv15504, esv21059
SamplesNA11995, NA18508, NA11931, NA19190, NA18916, NA12828, NA12878, NA07045, NA19114, NA12239, NA15510, NA19099, NA19257, NA18523, NA18909, NA19108, NA19147, NA19240, NA12006
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
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)esv26630
Frequency
Sample Size40
Observed Gain15
Observed Loss5
Observed Complex0
Frequencyn/a


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