A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16219123



Internal ID3096681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60266845..60267905hg38UCSC Ensembl
Innerchr20:60266895..60267855hg38UCSC Ensembl
Outerchr20:60266795..60267955hg38UCSC Ensembl
chr20:58841903..58842963hg19UCSC Ensembl
Innerchr20:58841953..58842913hg19UCSC Ensembl
Outerchr20:58841853..58843013hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646244
Supporting Variants
SamplesHG02722
Known GenesLOC284757
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16219123
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