A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5856797



Internal ID8943728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:41430436..41432255hg38UCSC Ensembl
Outerchr18:41430279..41432412hg38UCSC Ensembl
Innerchr18:39010400..39012219hg19UCSC Ensembl
Outerchr18:39010243..39012376hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659239
Supporting Variants
SamplesHG00475
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5856797
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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