A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968126



Internal ID5969942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1486559..1506658hg38UCSC Ensembl
chr19:1486558..1506657hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820100
hg1920100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643399
Supporting Variants
SamplesHG01893
Known GenesADAMTSL5, PCSK4, REEP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968126
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