A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22139



Internal ID11039372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:16538396..16615963hg38UCSC Ensembl
Innerchr3:16579903..16657470hg19UCSC Ensembl
Innerchr3:16554907..16632474hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3877568
hg1977568
hg1877568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14214, esv15514, esv15991, esv20309
SamplesNA18508, NA12004, NA19190, NA12287, NA12156, NA11993, NA12489, NA19225, NA06985
Known GenesDAZL, LINC00690
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)esv22139
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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