A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5908951



Internal ID9813168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50830153..50834636hg38UCSC Ensembl
chr18:48356523..48361006hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674712
Supporting Variants
SamplesNA19920
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5908951
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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