A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16069656



Internal ID3435242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46453596..46459670hg38UCSC Ensembl
Innerchr19:46453625..46459641hg38UCSC Ensembl
Outerchr19:46453567..46459699hg38UCSC Ensembl
chr19:46956853..46962927hg19UCSC Ensembl
Innerchr19:46956882..46962898hg19UCSC Ensembl
Outerchr19:46956824..46962956hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg386075
hg196075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644530
Supporting Variants
SamplesHG03069
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16069656
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