A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15474524



Internal ID1378910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49162320..49164097hg38UCSC Ensembl
Innerchr16:49162320..49164097hg38UCSC Ensembl
Outerchr16:49162266..49164181hg38UCSC Ensembl
chr16:49196231..49198008hg19UCSC Ensembl
Innerchr16:49196231..49198008hg19UCSC Ensembl
Outerchr16:49196177..49198092hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381778
hg191778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638590
Supporting Variants
SamplesHG01248
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15474524
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