A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1997829



Internal ID7322254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:344947..345227hg38UCSC Ensembl
Outerchr5:344871..345278hg38UCSC Ensembl
Innerchr5:345062..345342hg19UCSC Ensembl
Outerchr5:344986..345393hg19UCSC Ensembl
Innerchr5:398062..398342hg18UCSC Ensembl
Outerchr5:397986..398393hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38408
hg19408
hg18408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4557177
SamplesNA18507
Known GenesAHRR
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)esv1997829
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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