A curated catalogue of human genomic structural variation

Variant Details

Variant: esv25966

Internal ID11043199
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29686177..29961064hg38UCSC Ensembl
Innerchr6:29653954..29928841hg19UCSC Ensembl
Innerchr6:29761933..30036820hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20940, esv15726, esv18554, esv12140, esv15856, esv17468, esv11180, esv20324, esv20595, esv13518, esv15908, esv10151, esv10073
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA18511, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesHCG4, HCG4B, HLA-A, HLA-F, HLA-F-AS1, HLA-G, HLA-H, IFITM4P, LOC554223
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)esv25966
Sample Size40
Observed Gain35
Observed Loss10
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer