A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16069689



Internal ID1524418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46761174..46765606hg38UCSC Ensembl
Innerchr19:46761175..46765605hg38UCSC Ensembl
Outerchr19:46761173..46765607hg38UCSC Ensembl
chr19:47264431..47268863hg19UCSC Ensembl
Innerchr19:47264432..47268862hg19UCSC Ensembl
Outerchr19:47264430..47268864hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384433
hg194433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644535
Supporting Variants
SamplesHG01396
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16069689
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