A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27315



Internal ID11391234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31302589..31384601hg38UCSC Ensembl
Innerchr6:31270366..31352378hg19UCSC Ensembl
Innerchr6:31378345..31460357hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3882013
hg1982013
hg1882013
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12253, esv17452, esv16579, esv11221, esv14377, esv17620, esv14736, esv20184, esv20180, esv13768, esv19447, esv13488, esv14058, esv21005, esv21403, esv15074, esv20813, esv14609, esv17624, esv11661, esv10535, esv15425, esv10002, esv17793, esv16974, esv10145
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, 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-B, MIR6891
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)esv27315
Frequency
Sample Size40
Observed Gain33
Observed Loss29
Observed Complex0
Frequencyn/a


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