A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2360836



Internal ID7685261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2980337..2980428hg38UCSC Ensembl
Outerchr3:2980154..2980600hg38UCSC Ensembl
Innerchr3:3022021..3022112hg19UCSC Ensembl
Outerchr3:3021838..3022284hg19UCSC Ensembl
Innerchr3:2997021..2997112hg18UCSC Ensembl
Outerchr3:2996838..2997284hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4571609
SamplesNA18507
Known GenesCNTN4
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)esv2360836
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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