A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4776143



Internal ID7015089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79408984..79409073hg38UCSC Ensembl
Outerchr18:79408764..79409371hg38UCSC Ensembl
Innerchr18:77168984..77169073hg19UCSC Ensembl
Outerchr18:77168764..77169371hg19UCSC Ensembl
Innerchr18:75269972..75270061hg18UCSC Ensembl
Outerchr18:75269752..75270359hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38608
hg19608
hg18608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2012703
Supporting Variants
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)essv4776143
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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