A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5767851



Internal ID8745254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8634167..8634283hg38UCSC Ensembl
chr18:8634165..8634281hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2656851
Supporting Variants
SamplesNA18566
Known GenesRAB12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5767851
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