A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2225549



Internal ID7549974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76027375..76027742hg38UCSC Ensembl
Outerchr4:76027295..76027804hg38UCSC Ensembl
Innerchr4:76948528..76948895hg19UCSC Ensembl
Outerchr4:76948448..76948957hg19UCSC Ensembl
Innerchr4:77167552..77167919hg18UCSC Ensembl
Outerchr4:77167472..77167981hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38510
hg19510
hg18510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4544006
SamplesNA18507
Known GenesART3
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)esv2225549
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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