A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198898



Internal ID1167596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49717719..49725729hg38UCSC Ensembl
chr20:48334256..48342266hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg388011
hg198011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646022
Supporting Variants
SamplesHG01051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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