A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4764695



Internal ID7350327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168316236..168317957hg38UCSC Ensembl
Outerchr6:168316163..168318011hg38UCSC Ensembl
Innerchr6:168716916..168718637hg19UCSC Ensembl
Outerchr6:168716843..168718691hg19UCSC Ensembl
Innerchr6:168459765..168461486hg18UCSC Ensembl
Outerchr6:168459692..168461540hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381849
hg191849
hg181849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2155452
Supporting Variants
SamplesNA18507
Known GenesDACT2
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)essv4764695
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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