A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2063006



Internal ID7387432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154108432..154112211hg38UCSC Ensembl
Outerchr1:154108285..154112382hg38UCSC Ensembl
Innerchr1:154080908..154084687hg19UCSC Ensembl
Outerchr1:154080761..154084858hg19UCSC Ensembl
Innerchr1:152347532..152351311hg18UCSC Ensembl
Outerchr1:152347385..152351482hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384098
hg194098
hg184098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4690201
SamplesNA18507
Known GenesNUP210L
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)esv2063006
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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