A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555187



Internal ID18756263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:30292623..30292907hg38UCSC Ensembl
Outerchr18:30292549..30292970hg38UCSC Ensembl
Innerchr18:27872589..27872873hg19UCSC Ensembl
Outerchr18:27872515..27872936hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753934
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555187
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