A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11992171



Internal ID4643189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99098652..99153779hg38UCSC Ensembl
chr5:98434356..98489483hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3855128
hg1955128
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605927
Supporting Variants
SamplesHG04176
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11992171
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