A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196563



Internal ID6198379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45849473..45851268hg38UCSC Ensembl
Innerchr20:45849487..45851255hg38UCSC Ensembl
Outerchr20:45849460..45851282hg38UCSC Ensembl
chr20:44478112..44479907hg19UCSC Ensembl
Innerchr20:44478126..44479894hg19UCSC Ensembl
Outerchr20:44478099..44479921hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645942
Supporting Variants
SamplesNA20510
Known GenesACOT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196563
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