A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11132



Internal ID11028366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32017364..32023967hg38UCSC Ensembl
Innerchr6:31985141..31991744hg19UCSC Ensembl
Innerchr6:32093119..32099722hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386604
hg196604
hg186604
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28110
Supporting Variantsessv42722, essv70644, essv49371, essv52008, essv32458, essv68088, essv76623, essv71641, essv53868, essv65967, essv57771, essv39229, essv59194, essv63496, essv44314, essv35679, essv35032
SamplesNA18502, NA18508, NA18916, NA12287, NA11993, NA12489, NA18907, NA15510, NA19225, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA12006, NA18511
Known GenesC4A, C4B, C4B_2
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)esv11132
Frequency
Sample Size40
Observed Gain1
Observed Loss16
Observed Complex0
Frequencyn/a


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