A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2210205



Internal ID7534630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27793342..27793396hg38UCSC Ensembl
Outerchr22:27793144..27793587hg38UCSC Ensembl
Innerchr22:28189330..28189384hg19UCSC Ensembl
Outerchr22:28189132..28189575hg19UCSC Ensembl
Innerchr22:26519330..26519384hg18UCSC Ensembl
Outerchr22:26519132..26519575hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38444
hg19444
hg18444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4725866
SamplesNA18507
Known GenesMN1
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)esv2210205
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