A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1987764



Internal ID7312189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:90527874..90528174hg38UCSC Ensembl
Outerchr6:90527681..90528366hg38UCSC Ensembl
Innerchr6:91237593..91237893hg19UCSC Ensembl
Outerchr6:91237400..91238085hg19UCSC Ensembl
Innerchr6:91294314..91294614hg18UCSC Ensembl
Outerchr6:91294121..91294806hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38686
hg19686
hg18686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4645461
SamplesNA18507
Known GenesMAP3K7
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)esv1987764
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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