A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16905



Internal ID11034139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29387269..29395261hg38UCSC Ensembl
Innerchr22:29783258..29791250hg19UCSC Ensembl
Innerchr22:28113258..28121250hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387993
hg197993
hg187993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23708
Supporting Variantsessv46020, essv80172, essv55716, essv69488, essv40949, essv55916, essv51427, essv63631, essv59259, essv44216, essv57136, essv78248, essv63305, essv48407, essv61439, essv66221, essv81274, essv43571, essv52609, essv66990, essv37450, essv53824, essv75771, essv78810, essv75360, essv82920, essv60651
SamplesNA11995, NA18508, NA12414, NA11931, NA12004, NA19190, NA12044, NA12828, NA11993, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA18523, NA18909, NA19108, NA19240, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesAP1B1
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)esv16905
Frequency
Sample Size40
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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