A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2636n166



Internal ID22802535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119628670..119633326hg38UCSC Ensembl
chr8:120640910..120645566hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384657
hg194657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4164727, nsv4154582
Samples
Known GenesENPP2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)dgv2636n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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