A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6134322



Internal ID8942996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30408256..30470948hg38UCSC Ensembl
chr18:27988222..28050914hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3862693
hg1962693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676511
Supporting Variants
SamplesHG00475
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6134322
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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