A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2180695



Internal ID7505120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:83300570..83300840hg38UCSC Ensembl
Outerchr4:83300362..83301039hg38UCSC Ensembl
Innerchr4:84221723..84221993hg19UCSC Ensembl
Outerchr4:84221515..84222192hg19UCSC Ensembl
Innerchr4:84440747..84441017hg18UCSC Ensembl
Outerchr4:84440539..84441216hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38678
hg19678
hg18678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4630195
SamplesNA18507
Known GenesHPSE
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)esv2180695
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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