A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15514819



Internal ID1792100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71832799..71835837hg38UCSC Ensembl
chr16:71866702..71869740hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg383039
hg193039
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638982
Supporting Variants
SamplesHG01673
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15514819
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