A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16069210



Internal ID4490058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314109..46315478hg38UCSC Ensembl
Innerchr19:46314258..46315364hg38UCSC Ensembl
Outerchr19:46313899..46315688hg38UCSC Ensembl
chr19:46817366..46818735hg19UCSC Ensembl
Innerchr19:46817515..46818621hg19UCSC Ensembl
Outerchr19:46817156..46818945hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644527
Supporting Variants
SamplesHG03990
Known GenesHIF3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16069210
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