A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2278880



Internal ID7603305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106535763..106536065hg38UCSC Ensembl
Outerchr6:106535564..106536281hg38UCSC Ensembl
Innerchr6:106983638..106983940hg19UCSC Ensembl
Outerchr6:106983439..106984156hg19UCSC Ensembl
Innerchr6:107090331..107090633hg18UCSC Ensembl
Outerchr6:107090132..107090849hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38718
hg19718
hg18718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4855369
SamplesNA18507
Known GenesAIM1
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)esv2278880
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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