A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27883



Internal ID11045116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:348000..501567hg38UCSC Ensembl
Innerchr1:317770..471337hg19UCSC Ensembl
Innerchr1:307633..461200hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38153568
hg19153568
hg18153568
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17876, esv13367, esv15785, esv16611, esv20401, esv14573, esv13800, esv15703, esv10639, esv9873, esv20387
SamplesNA18502, NA12414, NA19190, NA18916, NA12287, NA12828, NA11993, NA12489, NA12878, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA18523, NA18858, NA18909, NA19108, NA18517, NA12749, NA18505, NA12006, NA18511, NA12776
Known GenesLOC100132062, LOC100132287, LOC100133331, OR4F16, OR4F29, OR4F3
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)esv27883
Frequency
Sample Size40
Observed Gain13
Observed Loss17
Observed Complex0
Frequencyn/a


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