A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19090



Internal ID11383009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26876034..27015677hg38UCSC Ensembl
Innerchr6:26843813..26983456hg19UCSC Ensembl
Innerchr6:26951792..27091435hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38139644
hg19139644
hg18139644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28434
Supporting Variantsessv45825, essv69651, essv78672, essv57321, essv42205, essv43300, essv73511, essv40351, essv56398, essv61484, essv49896, essv52103, essv48816, essv59642, essv39621
SamplesNA12287, NA12156, NA12044, NA11993, NA12878, NA12239, NA18523, NA18909, NA18517, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesGUSBP2, LINC00240
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)esv19090
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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