A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4633047



Internal ID7218679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111960076..111960136hg38UCSC Ensembl
Outerchr13:111959883..111960319hg38UCSC Ensembl
Innerchr13:112614390..112614450hg19UCSC Ensembl
Outerchr13:112614197..112614633hg19UCSC Ensembl
Innerchr13:111662391..111662451hg18UCSC Ensembl
Outerchr13:111662198..111662634hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38437
hg19437
hg18437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1920672
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)essv4633047
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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