A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1960476



Internal ID7284901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14708893..14708959hg38UCSC Ensembl
Outerchr10:14708709..14709157hg38UCSC Ensembl
Innerchr10:14750892..14750958hg19UCSC Ensembl
Outerchr10:14750708..14751156hg19UCSC Ensembl
Innerchr10:14790898..14790964hg18UCSC Ensembl
Outerchr10:14790714..14791162hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38449
hg19449
hg18449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4821707
SamplesNA18507
Known GenesFAM107B
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)esv1960476
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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