A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955669



Internal ID1957485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80298343..80321615hg38UCSC Ensembl
chr5:79594162..79617434hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3823273
hg1923273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605566
Supporting Variants
SamplesHG03372
Known GenesLOC644936, SPZ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955669
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