A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2067033



Internal ID7391458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29818422..29818465hg38UCSC Ensembl
Outerchr22:29818217..29818666hg38UCSC Ensembl
Innerchr22:30214411..30214454hg19UCSC Ensembl
Outerchr22:30214206..30214655hg19UCSC Ensembl
Innerchr22:28544411..28544454hg18UCSC Ensembl
Outerchr22:28544206..28544655hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38450
hg19450
hg18450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4680656
SamplesNA18507
Known GenesASCC2
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)esv2067033
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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