A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642788



Internal ID6682868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63922332..63954216hg38UCSC Ensembl
chr18:61589566..61621450hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3831885
hg1931885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15906745, essv15906746
SamplesNA18616, NA19114
Known GenesHMSD, SERPINB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642788
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