A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18995



Internal ID11036229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:35639220..35642926hg38UCSC Ensembl
Innerchr10:35928148..35931854hg19UCSC Ensembl
Innerchr10:35968154..35971860hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg383707
hg193707
hg183707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22469
Supporting Variantsessv63963, essv48899
SamplesNA07045, NA07037
Known GenesFZD8, MIR4683
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)esv18995
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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