A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2074123



Internal ID712216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:113117390..113117437hg38UCSC Ensembl
Outerchr10:113117212..113117615hg38UCSC Ensembl
Innerchr10:114877149..114877196hg19UCSC Ensembl
Outerchr10:114876971..114877374hg19UCSC Ensembl
Innerchr10:114867139..114867186hg18UCSC Ensembl
Outerchr10:114866961..114867364hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38404
hg19404
hg18404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4987386
SamplesNA18507
Known GenesTCF7L2
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)esv2074123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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