A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642317



Internal ID7029087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41196974..41358657hg38UCSC Ensembl
chr18:38776938..38938621hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38161684
hg19161684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15851822, essv15851823
SamplesHG02142, HG01852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642317
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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