A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2279886



Internal ID7604311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47144699..47144912hg38UCSC Ensembl
Outerchr22:47144607..47145014hg38UCSC Ensembl
Innerchr22:47540342..47540555hg19UCSC Ensembl
Outerchr22:47540250..47540657hg19UCSC Ensembl
Innerchr22:45919006..45919219hg18UCSC Ensembl
Outerchr22:45918914..45919321hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38408
hg19408
hg18408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4848203
SamplesNA18507
Known GenesTBC1D22A
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2279886
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer