A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21045



Internal ID11038279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515541..76516896hg38UCSC Ensembl
Innerchr7:76144858..76146213hg19UCSC Ensembl
Innerchr7:75982794..75984149hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381356
hg191356
hg181356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23975
Supporting Variantsessv60898, essv70136, essv68672
SamplesNA18916, NA18523, NA18858
Known GenesUPK3B
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)esv21045
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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