A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2222823



Internal ID860916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189858127..189858426hg38UCSC Ensembl
Outerchr3:189857913..189858639hg38UCSC Ensembl
Innerchr3:189575916..189576215hg19UCSC Ensembl
Outerchr3:189575702..189576428hg19UCSC Ensembl
Innerchr3:191058610..191058909hg18UCSC Ensembl
Outerchr3:191058396..191059122hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38727
hg19727
hg18727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5000708
SamplesNA18507
Known GenesTP63
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)esv2222823
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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