A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10396



Internal ID11374315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:88099298..88100617hg38UCSC Ensembl
Innerchr9:90714213..90715532hg19UCSC Ensembl
Innerchr9:89904033..89905352hg18UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg381320
hg191320
hg181320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25922
Supporting Variantsessv62490, essv61728, essv49616, essv43741, essv70058
SamplesNA12044, NA12239, NA15510, NA18909, NA18517
Known Genes
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)esv10396
Frequency
Sample Size40
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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