A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2271283



Internal ID7595708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:261801..262520hg38UCSC Ensembl
Outerchr3:261736..262562hg38UCSC Ensembl
Innerchr3:303484..304203hg19UCSC Ensembl
Outerchr3:303419..304245hg19UCSC Ensembl
Innerchr3:278484..279203hg18UCSC Ensembl
Outerchr3:278419..279245hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38827
hg19827
hg18827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4587437
SamplesNA18507
Known GenesCHL1
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)esv2271283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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