A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555683



Internal ID18756759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75858095..75858373hg38UCSC Ensembl
Outerchr18:75858007..75858427hg38UCSC Ensembl
Innerchr18:73570050..73570328hg19UCSC Ensembl
Outerchr18:73569962..73570382hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754430
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555683
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer