A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2405754



Internal ID7730181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19666741..19666876hg38UCSC Ensembl
Outerchr8:19666611..19666960hg38UCSC Ensembl
Innerchr8:19524252..19524387hg19UCSC Ensembl
Outerchr8:19524122..19524471hg19UCSC Ensembl
Innerchr8:19568532..19568667hg18UCSC Ensembl
Outerchr8:19568402..19568751hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38350
hg19350
hg18350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4862001
SamplesNA18507
Known GenesCSGALNACT1
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)esv2405754
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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