A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16814



Internal ID11034048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54626656..54630301hg38UCSC Ensembl
Innerchr1:55092329..55095974hg19UCSC Ensembl
Innerchr1:54864917..54868562hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383646
hg193646
hg183646
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24082
Supporting Variantsessv39640, essv49909, essv68323, essv71687, essv40878, essv64790, essv79571, essv52760, essv33051, essv37811, essv61721, essv58619, essv67021, essv46625, essv42822, essv50690, essv65624, essv71564, essv83190, essv81874, essv57203, essv60953
SamplesNA18508, NA11931, NA19190, NA18916, NA12287, NA12828, NA11993, NA12878, NA07045, NA19114, NA12239, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA19129
Known GenesACOT11
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)esv16814
Frequency
Sample Size40
Observed Gain21
Observed Loss1
Observed Complex0
Frequencyn/a


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