A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10336



Internal ID11027570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105879719..105963134hg38UCSC Ensembl
Innerchr14:106345577..106429200hg19UCSC Ensembl
Innerchr14:105416622..105500245hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3883416
hg1983624
hg1883624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv74541, essv40209, essv84033, essv33103, essv72988, essv82168, essv56368
SamplesNA12004, NA19190, NA12878, NA19114, NA19225, NA19147, NA12776
Known GenesKIAA0125
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)esv10336
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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