A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16036623



Internal ID2552578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30796565..30798839hg38UCSC Ensembl
Innerchr19:30796715..30798689hg38UCSC Ensembl
Outerchr19:30796415..30798989hg38UCSC Ensembl
chr19:31287472..31289746hg19UCSC Ensembl
Innerchr19:31287622..31289596hg19UCSC Ensembl
Outerchr19:31287322..31289896hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644143
Supporting Variants
SamplesHG02266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16036623
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