A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2076361



Internal ID7400786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46183524..46183924hg38UCSC Ensembl
Outerchr21:46183428..46184004hg38UCSC Ensembl
Innerchr21:47603438..47603838hg19UCSC Ensembl
Outerchr21:47603342..47603918hg19UCSC Ensembl
Innerchr21:46427866..46428266hg18UCSC Ensembl
Outerchr21:46427770..46428346hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38577
hg19577
hg18577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4836710
SamplesNA18507
Known GenesSPATC1L
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)esv2076361
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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