A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18598



Internal ID11382517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38782691..38824480hg38UCSC Ensembl
Innerchr10:39075822..39117611hg19UCSC Ensembl
Innerchr10:39115828..39157617hg18UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg3841790
hg1941790
hg1841790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26671
Supporting Variantsessv62562, essv37774, essv77263, essv64006, essv44395, essv75455, essv52958, essv58862
SamplesNA18508, NA12414, NA12489, NA07045, NA15510, NA19257, NA19108, NA18511
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)esv18598
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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