A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28562



Internal ID11045795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133423518..133787272hg38UCSC Ensembl
Innerchr10:135237022..135524597hg19UCSC Ensembl
Innerchr10:135087012..135374587hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38363755
hg19287576
hg18287576
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20969, esv11443, esv20766, esv10825, esv17485, esv12779, esv21335, esv19981, esv15777, esv13155, esv14051, esv18890, esv18130, esv21336
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SCART1, SPRN, SPRNP1, SYCE1
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)esv28562
Frequency
Sample Size40
Observed Gain34
Observed Loss10
Observed Complex0
Frequencyn/a


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