A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196961



Internal ID6198777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47150463..47160058hg38UCSC Ensembl
Innerchr20:47150463..47160058hg38UCSC Ensembl
Outerchr20:47150463..47160058hg38UCSC Ensembl
chr20:45779102..45788697hg19UCSC Ensembl
Innerchr20:45779102..45788697hg19UCSC Ensembl
Outerchr20:45779102..45788697hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389596
hg199596
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645966
Supporting Variants
SamplesNA21111
Known GenesEYA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196961
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