A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5396404



Internal ID8373807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45045451..45046134hg38UCSC Ensembl
chr18:42625416..42626099hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671518
Supporting Variants
SamplesNA18516
Known GenesSETBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5396404
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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