A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2195824



Internal ID7520250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91140646..91140952hg38UCSC Ensembl
Outerchr8:91140436..91141152hg38UCSC Ensembl
Innerchr8:92152874..92153180hg19UCSC Ensembl
Outerchr8:92152664..92153380hg19UCSC Ensembl
Innerchr8:92222050..92222356hg18UCSC Ensembl
Outerchr8:92221840..92222556hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4664816
SamplesNA18507
Known GenesLRRC69
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)esv2195824
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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