A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1982419



Internal ID7653530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:71028780..71028990hg38UCSC Ensembl
Outerchr6:71028606..71029177hg38UCSC Ensembl
Innerchr6:71738483..71738693hg19UCSC Ensembl
Outerchr6:71738309..71738880hg19UCSC Ensembl
Innerchr6:71795204..71795414hg18UCSC Ensembl
Outerchr6:71795030..71795601hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38572
hg19572
hg18572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4878706
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)esv1982419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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