A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19537



Internal ID11383456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15514940..15892962hg38UCSC Ensembl
Innerchr22:16085001..16463023hg19UCSC Ensembl
Innerchr22:14465001..14843023hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38378023
hg19378023
hg18378023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25550
Supporting Variantsessv71334, essv47272, essv42609, essv34258, essv48844, essv68934, essv45207, essv63548, essv39504, essv71719, essv84147, essv77217, essv80507, essv40056, essv36222, essv53174, essv55780, essv69655
SamplesNA18502, NA11995, NA18861, NA18508, NA19190, NA18916, NA12287, NA12044, NA12878, NA18907, NA07045, NA19225, NA18858, NA18909, NA07037, NA19129, NA18511, NA12776
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
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)esv19537
Frequency
Sample Size40
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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