A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554973



Internal ID18409363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3997039..3997422hg38UCSC Ensembl
Outerchr18:3996943..3997533hg38UCSC Ensembl
Innerchr18:3997039..3997422hg19UCSC Ensembl
Outerchr18:3996943..3997533hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753720
Samples
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554973
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