A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13349



Internal ID11377268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79714065..79744732hg38UCSC Ensembl
Innerchr10:81473821..81504488hg19UCSC Ensembl
Innerchr10:81143827..81174494hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3830668
hg1930668
hg1830668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24649
Supporting Variantsessv51085, essv77672, essv76882, essv82584, essv64209, essv73555, essv40296, essv69189, essv59994, essv44205
SamplesNA11931, NA19190, NA12156, NA12044, NA12489, NA12878, NA07045, NA06985, NA18523, 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)esv13349
Frequency
Sample Size40
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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