A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9928516



Internal ID5623133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50303767..50305853hg38UCSC Ensembl
Innerchr1:50303767..50305853hg38UCSC Ensembl
Outerchr1:50303638..50305928hg38UCSC Ensembl
chr1:50769439..50771525hg19UCSC Ensembl
Innerchr1:50769439..50771525hg19UCSC Ensembl
Outerchr1:50769310..50771600hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382087
hg192087
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586009
Supporting Variants
SamplesNA19055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9928516
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