A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4994537



Internal ID7580169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:70365974..70366291hg38UCSC Ensembl
Outerchr3:70365771..70366496hg38UCSC Ensembl
Innerchr3:70415125..70415442hg19UCSC Ensembl
Outerchr3:70414922..70415647hg19UCSC Ensembl
Innerchr3:70497815..70498132hg18UCSC Ensembl
Outerchr3:70497612..70498337hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38726
hg19726
hg18726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1949460
Supporting Variants
SamplesNA18507
Known Genes
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)essv4994537
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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