A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4569671



Internal ID7155303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166259636..166259685hg38UCSC Ensembl
Outerchr6:166259450..166259854hg38UCSC Ensembl
Innerchr6:166673124..166673173hg19UCSC Ensembl
Outerchr6:166672938..166673342hg19UCSC Ensembl
Innerchr6:166593114..166593163hg18UCSC Ensembl
Outerchr6:166592928..166593332hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38405
hg19405
hg18405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1965979
Supporting Variants
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)essv4569671
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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