A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1954637



Internal ID7279063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:143284985..143285116hg38UCSC Ensembl
Outerchr5:143284801..143285319hg38UCSC Ensembl
Innerchr5:142664550..142664681hg19UCSC Ensembl
Outerchr5:142664366..142664884hg19UCSC Ensembl
Innerchr5:142644743..142644874hg18UCSC Ensembl
Outerchr5:142644559..142645077hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38519
hg19519
hg18519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4917559
SamplesNA18507
Known GenesNR3C1
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)esv1954637
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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