A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196850



Internal ID6198666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46985251..46987977hg38UCSC Ensembl
Innerchr20:46985264..46987965hg38UCSC Ensembl
Outerchr20:46985239..46987990hg38UCSC Ensembl
chr20:45613890..45616616hg19UCSC Ensembl
Innerchr20:45613903..45616604hg19UCSC Ensembl
Outerchr20:45613878..45616629hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382727
hg192727
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645964
Supporting Variants
SamplesHG03778
Known GenesEYA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196850
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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