A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2078619



Internal ID7749730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13216021..13216322hg38UCSC Ensembl
Outerchr10:13215813..13216530hg38UCSC Ensembl
Innerchr10:13258021..13258322hg19UCSC Ensembl
Outerchr10:13257813..13258530hg19UCSC Ensembl
Innerchr10:13298027..13298328hg18UCSC Ensembl
Outerchr10:13297819..13298536hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38718
hg19718
hg18718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4613305
SamplesNA18507
Known Genes
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)esv2078619
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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