A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199541



Internal ID1208003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51244442..51246854hg38UCSC Ensembl
Innerchr20:51244443..51246853hg38UCSC Ensembl
Outerchr20:51244441..51246855hg38UCSC Ensembl
chr20:49860979..49863391hg19UCSC Ensembl
Innerchr20:49860980..49863390hg19UCSC Ensembl
Outerchr20:49860978..49863392hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382413
hg192413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646061
Supporting Variants
SamplesHG01075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199541
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