A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2038414



Internal ID7362839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47069586..47069826hg38UCSC Ensembl
Outerchr22:47069491..47069887hg38UCSC Ensembl
Innerchr22:47465482..47465722hg19UCSC Ensembl
Outerchr22:47465387..47465783hg19UCSC Ensembl
Innerchr22:45844146..45844386hg18UCSC Ensembl
Outerchr22:45844051..45844447hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38397
hg19397
hg18397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4737774
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)esv2038414
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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