A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2043847



Internal ID7368272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45108749..45108814hg38UCSC Ensembl
Outerchr21:45108565..45109005hg38UCSC Ensembl
Innerchr21:46528664..46528729hg19UCSC Ensembl
Outerchr21:46528480..46528920hg19UCSC Ensembl
Innerchr21:45353092..45353157hg18UCSC Ensembl
Outerchr21:45352908..45353348hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38441
hg19441
hg18441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4672612
SamplesNA18507
Known GenesADARB1
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)esv2043847
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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