A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2082279



Internal ID7753390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:164930814..164930894hg38UCSC Ensembl
Outerchr6:164930622..164931088hg38UCSC Ensembl
Innerchr6:165344303..165344383hg19UCSC Ensembl
Outerchr6:165344111..165344577hg19UCSC Ensembl
Innerchr6:165264293..165264373hg18UCSC Ensembl
Outerchr6:165264101..165264567hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4817720
SamplesNA18507
Known Genes
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)esv2082279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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