A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2169204



Internal ID807297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29299980..29300068hg38UCSC Ensembl
Outerchr22:29299821..29300227hg38UCSC Ensembl
Innerchr22:29695970..29696058hg19UCSC Ensembl
Outerchr22:29695811..29696217hg19UCSC Ensembl
Innerchr22:28025970..28026058hg18UCSC Ensembl
Outerchr22:28025811..28026217hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38407
hg19407
hg18407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4564598
SamplesNA18507
Known GenesEWSR1
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)esv2169204
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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