A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1993351



Internal ID7317776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26887701..26887755hg38UCSC Ensembl
Outerchr2:26887499..26887964hg38UCSC Ensembl
Innerchr2:27110569..27110623hg19UCSC Ensembl
Outerchr2:27110367..27110832hg19UCSC Ensembl
Innerchr2:26964073..26964127hg18UCSC Ensembl
Outerchr2:26963871..26964336hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38466
hg19466
hg18466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4512291
SamplesNA18507
Known GenesDPYSL5
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)esv1993351
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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