A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1948986



Internal ID7623673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170444249..170444284hg38UCSC Ensembl
Outerchr6:170444066..170444470hg38UCSC Ensembl
Innerchr6:170753337..170753372hg19UCSC Ensembl
Outerchr6:170753154..170753558hg19UCSC Ensembl
Innerchr6:170595262..170595297hg18UCSC Ensembl
Outerchr6:170595079..170595483hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38405
hg19405
hg18405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4527895
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)esv1948986
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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