A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2312150



Internal ID7636575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168055339..168056498hg38UCSC Ensembl
Outerchr1:168055138..168056688hg38UCSC Ensembl
Innerchr1:168024577..168025736hg19UCSC Ensembl
Outerchr1:168024376..168025926hg19UCSC Ensembl
Innerchr1:166291201..166292360hg18UCSC Ensembl
Outerchr1:166291000..166292550hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381551
hg191551
hg181551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4561571
SamplesNA18507
Known GenesDCAF6
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)esv2312150
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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