A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075211



Internal ID6077094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49298254..49302476hg38UCSC Ensembl
Innerchr19:49298304..49302426hg38UCSC Ensembl
Outerchr19:49298204..49302526hg38UCSC Ensembl
chr19:49801511..49805733hg19UCSC Ensembl
Innerchr19:49801561..49805683hg19UCSC Ensembl
Outerchr19:49801461..49805783hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384223
hg194223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644621
Supporting Variants
SamplesHG00675
Known GenesSLC6A16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075211
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