A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586036



Internal ID6973555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51485849..51501532hg38UCSC Ensembl
Innerchr1:51486349..51501032hg38UCSC Ensembl
Outerchr1:51484849..51502532hg38UCSC Ensembl
chr1:51951521..51967204hg19UCSC Ensembl
Innerchr1:51952021..51966704hg19UCSC Ensembl
Outerchr1:51950521..51968204hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3815684
hg1915684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929248
SamplesHG00251
Known GenesEPS15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586036
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