A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16121183



Internal ID6122999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2750450..2751108hg38UCSC Ensembl
Innerchr20:2750455..2751104hg38UCSC Ensembl
Outerchr20:2750446..2751113hg38UCSC Ensembl
chr20:2731096..2731754hg19UCSC Ensembl
Innerchr20:2731101..2731750hg19UCSC Ensembl
Outerchr20:2731092..2731759hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645018
Supporting Variants
SamplesNA19072
Known GenesEBF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16121183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer