A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2292861



Internal ID7617286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139358358..139358594hg38UCSC Ensembl
Outerchr7:139358279..139358646hg38UCSC Ensembl
Innerchr7:139043104..139043340hg19UCSC Ensembl
Outerchr7:139043025..139043392hg19UCSC Ensembl
Innerchr7:138693644..138693880hg18UCSC Ensembl
Outerchr7:138693565..138693932hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38368
hg19368
hg18368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4942720
SamplesNA18507
Known GenesC7orf55-LUC7L2, LUC7L2
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)esv2292861
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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