A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2174956



Internal ID7499381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79483037..79483095hg38UCSC Ensembl
Outerchr18:79482799..79483292hg38UCSC Ensembl
Innerchr18:77243037..77243095hg19UCSC Ensembl
Outerchr18:77242799..77243292hg19UCSC Ensembl
Innerchr18:75344025..75344083hg18UCSC Ensembl
Outerchr18:75343787..75344280hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38494
hg19494
hg18494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4865681
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)esv2174956
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