A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1937920



Internal ID7616288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:148849019..148849322hg38UCSC Ensembl
Outerchr3:148848812..148849524hg38UCSC Ensembl
Innerchr3:148566806..148567109hg19UCSC Ensembl
Outerchr3:148566599..148567311hg19UCSC Ensembl
Innerchr3:150049496..150049799hg18UCSC Ensembl
Outerchr3:150049289..150050001hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4736548
SamplesNA18507
Known GenesCPB1
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)esv1937920
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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