A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16041381



Internal ID5123222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33191232..33192280hg38UCSC Ensembl
Innerchr19:33191233..33192279hg38UCSC Ensembl
Outerchr19:33191231..33192281hg38UCSC Ensembl
chr19:33682138..33683186hg19UCSC Ensembl
Innerchr19:33682139..33683185hg19UCSC Ensembl
Outerchr19:33682137..33683187hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644185
Supporting Variants
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16041381
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