A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2021289



Internal ID7345714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65555590..65555834hg38UCSC Ensembl
Outerchr4:65555412..65556013hg38UCSC Ensembl
Innerchr4:66421308..66421552hg19UCSC Ensembl
Outerchr4:66421130..66421731hg19UCSC Ensembl
Innerchr4:66103903..66104147hg18UCSC Ensembl
Outerchr4:66103725..66104326hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38602
hg19602
hg18602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4723710
SamplesNA18507
Known GenesEPHA5
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)esv2021289
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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