A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2008419



Internal ID646512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161730124..161730622hg38UCSC Ensembl
Outerchr6:161729959..161730772hg38UCSC Ensembl
Innerchr6:162151156..162151654hg19UCSC Ensembl
Outerchr6:162150991..162151804hg19UCSC Ensembl
Innerchr6:162071146..162071644hg18UCSC Ensembl
Outerchr6:162070981..162071794hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4715512
SamplesNA18507
Known GenesPARK2
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)esv2008419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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