A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659239



Internal ID9925344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41430436..41432255hg38UCSC Ensembl
Outerchr18:41430279..41432412hg38UCSC Ensembl
Innerchr18:39010400..39012219hg19UCSC Ensembl
Outerchr18:39010243..39012376hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6302503, essv5856797
SamplesHG00475, HG00584
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659239
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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