A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5774655



Internal ID8752058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47150460..47160056hg38UCSC Ensembl
chr20:45779099..45788695hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389597
hg199597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668903
Supporting Variants
SamplesNA19000
Known GenesEYA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5774655
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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