A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4509343



Internal ID6748289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76495824..76501259hg38UCSC Ensembl
Outerchr10:76495633..76501459hg38UCSC Ensembl
Innerchr10:78255582..78261017hg19UCSC Ensembl
Outerchr10:78255391..78261217hg19UCSC Ensembl
Innerchr10:77925588..77931023hg18UCSC Ensembl
Outerchr10:77925397..77931223hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg385827
hg195827
hg185827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2397407
Supporting Variants
SamplesNA18507
Known GenesC10orf11
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)essv4509343
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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