A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4646106



Internal ID7231738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75858070..75858375hg38UCSC Ensembl
Outerchr18:75857853..75858594hg38UCSC Ensembl
Innerchr18:73570025..73570330hg19UCSC Ensembl
Outerchr18:73569808..73570549hg19UCSC Ensembl
Innerchr18:71699013..71699318hg18UCSC Ensembl
Outerchr18:71698796..71699537hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38742
hg19742
hg18742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2258583
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)essv4646106
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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