A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2047377



Internal ID7371802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79481878..79482305hg38UCSC Ensembl
Outerchr18:79481817..79482475hg38UCSC Ensembl
Innerchr18:77241878..77242305hg19UCSC Ensembl
Outerchr18:77241817..77242475hg19UCSC Ensembl
Innerchr18:75342866..75343293hg18UCSC Ensembl
Outerchr18:75342805..75343463hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38659
hg19659
hg18659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4698013
SamplesNA18507
Known GenesNFATC1
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)esv2047377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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