A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15906745



Internal ID5908561
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642788
Supporting Variants
SamplesNA18616
Known GenesHMSD, SERPINB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15906745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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