A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5512155



Internal ID8489558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57351785..57353891hg38UCSC Ensembl
Outerchr18:57351414..57354261hg38UCSC Ensembl
Innerchr18:55019016..55021122hg19UCSC Ensembl
Outerchr18:55018645..55021492hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677142
Supporting Variants
SamplesHG00280
Known GenesST8SIA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5512155
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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