A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21985



Internal ID11039218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32444130..32812100hg38UCSC Ensembl
Innerchr6:32411907..32779877hg19UCSC Ensembl
Innerchr6:32519885..32887855hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38367971
hg19367971
hg18367971
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18770, esv18011, esv11852, esv20369, esv11986, esv9804, esv16645, esv18084, esv19763, esv11811, esv20855, esv12730, esv12942, esv17746, esv13011, esv10281, esv19484, esv11450, esv12761, esv18185, esv13711, esv12537, esv12459, esv17640, esv16480, esv20802, esv19417, esv14481, esv20758, esv12371, esv10001, esv21164, esv15803, esv15087, esv16386, esv16828, esv18428, esv18700, esv15308, esv10078, esv13755, esv18530, esv19501, esv13085, esv12240, esv14912, esv17147, esv14486, esv9939, esv13079, esv20010, esv18588, esv13107, esv14005, esv14871, esv13883, esv21088, esv14863, esv16553, esv14415, esv13379, esv17788, esv19456, esv13326, esv20089, esv20761, esv15932, esv10892, esv10949, esv18723, esv17874
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesHLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6
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)esv21985
Frequency
Sample Size40
Observed Gain39
Observed Loss26
Observed Complex0
Frequencyn/a


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