A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28999



Internal ID11046232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38959802..38996495hg38UCSC Ensembl
Innerchr22:39355807..39392500hg19UCSC Ensembl
Innerchr22:37685753..37722446hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3836694
hg1936694
hg1836694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10328
SamplesNA11931, NA07045, NA15510, NA06985, NA18523, NA19108, NA12006
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
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)esv28999
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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