A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2080821



Internal ID7751933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:13840791..13841139hg38UCSC Ensembl
Outerchr9:13840662..13841294hg38UCSC Ensembl
Innerchr9:13840790..13841138hg19UCSC Ensembl
Outerchr9:13840661..13841293hg19UCSC Ensembl
Innerchr9:13830790..13831138hg18UCSC Ensembl
Outerchr9:13830661..13831293hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e194
Supporting Variantsessv4971309
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)esv2080821
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer