A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980286



Internal ID5982102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3939296..3940003hg38UCSC Ensembl
Innerchr19:3939296..3940003hg38UCSC Ensembl
Outerchr19:3938987..3940245hg38UCSC Ensembl
chr19:3939294..3940001hg19UCSC Ensembl
Innerchr19:3939294..3940001hg19UCSC Ensembl
Outerchr19:3938985..3940243hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643484
Supporting Variants
SamplesHG01705
Known GenesNMRK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980286
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