A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4874679



Internal ID7460311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:106824341..106824442hg38UCSC Ensembl
Outerchr6:106824194..106824563hg38UCSC Ensembl
Innerchr6:107272216..107272317hg19UCSC Ensembl
Outerchr6:107272069..107272438hg19UCSC Ensembl
Innerchr6:107378909..107379010hg18UCSC Ensembl
Outerchr6:107378762..107379131hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38370
hg19370
hg18370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1927786
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)essv4874679
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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