A curated catalogue of human genomic structural variation

Variant Details

Variant: esv26630

Internal ID11043863
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54728244..54867750hg38UCSC Ensembl
Innerchr19:55239710..55379205hg19UCSC Ensembl
Innerchr19:59931522..60071017hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15504, esv17863, esv12040, esv10719, esv21059, esv11708, esv18546, esv9800, esv14841, esv12313
SamplesNA18523, NA19114, NA11931, NA12828, NA19257, NA19108, NA15510, NA19147, NA18508, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA18909, NA19099, NA12878, NA19240
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
Pubmed ID19812545
Accession Number(s)esv26630
Sample Size40
Observed Gain15
Observed Loss5
Observed Complex0

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