A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12929



Internal ID11376848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69255512..69367168hg38UCSC Ensembl
Innerchr4:70121230..70232886hg19UCSC Ensembl
Innerchr4:70155819..70267475hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38111657
hg19111657
hg18111657
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28328
Supporting Variantsessv49612, essv48144, essv73703, essv32939, essv57404, essv53479, essv66300, essv62953, essv74980, essv38678, essv64297, essv72419, essv51690, essv71182, essv45458
SamplesNA18508, NA12004, NA18916, NA12156, NA11993, NA07045, NA15510, NA19257, NA19225, NA19147, NA18517, NA19240, NA07037, NA19129, NA12006
Known GenesUGT2B28
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)esv12929
Frequency
Sample Size40
Observed Gain10
Observed Loss5
Observed Complex0
Frequencyn/a


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