A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642104



Internal ID7028874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30410024..30472228hg38UCSC Ensembl
chr18:27989990..28052194hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3862205
hg1962205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv610e214
Supporting Variantsessv15835323, essv15835322, essv15835321, essv15835325, essv15835324
SamplesNA19466, HG00674, HG00475, HG00476, NA19468
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642104
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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