A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4561498



Internal ID6800444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27770673..27770728hg38UCSC Ensembl
Outerchr22:27770491..27770926hg38UCSC Ensembl
Innerchr22:28166661..28166716hg19UCSC Ensembl
Outerchr22:28166479..28166914hg19UCSC Ensembl
Innerchr22:26496661..26496716hg18UCSC Ensembl
Outerchr22:26496479..26496914hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2056669
Supporting Variants
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)essv4561498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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