A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22059



Internal ID11039292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:60070..245320hg38UCSC Ensembl
Innerchr19:60070..245320hg19UCSC Ensembl
Innerchr19:11070..196320hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38185251
hg19185251
hg18185251
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14390, esv17163, esv15629, esv11126, esv12154, esv17209, esv11711, esv15641
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesFAM138A, FAM138F, LINC01002, OR4F17, WASH5P
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)esv22059
Frequency
Sample Size40
Observed Gain34
Observed Loss8
Observed Complex0
Frequencyn/a


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