A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28075



Internal ID11045308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21107303..21443444hg38UCSC Ensembl
Innerchr22:21461592..21797733hg19UCSC Ensembl
Innerchr22:19791592..20127733hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38336142
hg19336142
hg18336142
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19499, esv14293, esv14852, esv11245, esv13982, esv13618, esv17510, esv12578, esv13546, esv11089, esv13016, esv18965, esv10842, esv20535, esv14153, esv17920, esv14167, esv12351, esv20218, esv11467
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, 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 GenesBCRP2, FAM230B, HIC2, POM121L8P, RIMBP3B, RIMBP3C
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)esv28075
Frequency
Sample Size40
Observed Gain28
Observed Loss39
Observed Complex0
Frequencyn/a


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