A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2401890



Internal ID7726315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:96936732..96936804hg38UCSC Ensembl
Outerchr10:96936545..96936990hg38UCSC Ensembl
Innerchr10:98696489..98696561hg19UCSC Ensembl
Outerchr10:98696302..98696747hg19UCSC Ensembl
Innerchr10:98686479..98686551hg18UCSC Ensembl
Outerchr10:98686292..98686737hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38446
hg19446
hg18446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4893861
SamplesNA18507
Known GenesLCOR
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)esv2401890
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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