A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2166992



Internal ID7491417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3833156..3833210hg38UCSC Ensembl
Outerchr18:3832960..3833391hg38UCSC Ensembl
Innerchr18:3833156..3833210hg19UCSC Ensembl
Outerchr18:3832960..3833391hg19UCSC Ensembl
Innerchr18:3823156..3823210hg18UCSC Ensembl
Outerchr18:3822960..3823391hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4923371
SamplesNA18507
Known GenesDLGAP1
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)esv2166992
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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