A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11794750



Internal ID1796566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5098769..5240386hg38UCSC Ensembl
chr5:5098882..5240499hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38141618
hg19141618
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603889
Supporting Variants
SamplesHG00117
Known GenesADAMTS16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11794750
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