A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5604127



Internal ID8581530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024580..57024856hg38UCSC Ensembl
chr18:54691811..54692087hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661652
Supporting Variants
SamplesHG00346
Known GenesWDR7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5604127
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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