A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21003



Internal ID11038237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105881799..106369503hg38UCSC Ensembl
Innerchr14:106347657..106825434hg19UCSC Ensembl
Innerchr14:105418702..105896479hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38487705
hg19477778
hg18477778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv62147, essv79788
SamplesNA12239, NA12749
Known GenesADAM6, KIAA0125, LINC00226
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)esv21003
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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