A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169160



Internal ID3170976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38598438..38603313hg38UCSC Ensembl
chr8:38455956..38460831hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg384876
hg194876
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616931
Supporting Variants
SamplesNA20889
Known GenesRNF5P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169160
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer