A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13513349



Internal ID6143965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71134764..71183181hg38UCSC Ensembl
chr9:73749680..73798097hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3848418
hg1948418
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620597
Supporting Variants
SamplesNA19678
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13513349
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