A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15515204



Internal ID3525341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72060628..72077062hg38UCSC Ensembl
chr16:72094527..72110961hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3816435
hg1916435
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638996
Supporting Variants
SamplesHG03120
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15515204
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