A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794565



Internal ID3694124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4524090..4528401hg38UCSC Ensembl
chr5:4524203..4528514hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg384312
hg194312
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603878
Supporting Variants
SamplesHG03298
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794565
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