A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2399629



Internal ID8070740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44507378..44507678hg38UCSC Ensembl
Outerchr4:44507192..44507889hg38UCSC Ensembl
Innerchr4:44509395..44509695hg19UCSC Ensembl
Outerchr4:44509209..44509906hg19UCSC Ensembl
Innerchr4:44204152..44204452hg18UCSC Ensembl
Outerchr4:44203966..44204663hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38698
hg19698
hg18698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4965757
SamplesNA18507
Known Genes
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)esv2399629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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