A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1963512



Internal ID7287937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104774092..104774477hg38UCSC Ensembl
Outerchr6:104773987..104774584hg38UCSC Ensembl
Innerchr6:105221967..105222352hg19UCSC Ensembl
Outerchr6:105221862..105222459hg19UCSC Ensembl
Innerchr6:105328660..105329045hg18UCSC Ensembl
Outerchr6:105328555..105329152hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38598
hg19598
hg18598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4526541
SamplesNA18507
Known GenesHACE1
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)esv1963512
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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