A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2134988



Internal ID7459413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:675475..675670hg38UCSC Ensembl
Outerchr6:675322..675785hg38UCSC Ensembl
Innerchr6:675475..675670hg19UCSC Ensembl
Outerchr6:675322..675785hg19UCSC Ensembl
Innerchr6:620475..620670hg18UCSC Ensembl
Outerchr6:620322..620785hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38464
hg19464
hg18464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4938579
SamplesNA18507
Known GenesEXOC2
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)esv2134988
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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