A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21308



Internal ID11038542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161439273..161472930hg38UCSC Ensembl
Innerchr1:161409063..161442720hg19UCSC Ensembl
Innerchr1:159675687..159709344hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3833658
hg1933658
hg1833658
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28122
Supporting Variantsessv78606, essv45986, essv43074, essv48444, essv44470, essv56828, essv57624, essv37012, essv78950, essv59074, essv55669, essv72124
SamplesNA11993, NA12489, NA11894, NA19099, NA19225, NA06985, NA18909, NA19108, NA07037, NA12749, NA19129, NA12776
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)esv21308
Frequency
Sample Size40
Observed Gain6
Observed Loss6
Observed Complex0
Frequencyn/a


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