A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15523470



Internal ID5938290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75523984..75544656hg38UCSC Ensembl
chr16:75557882..75578554hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3820673
hg1920673
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639098
Supporting Variants
SamplesNA19350
Known GenesCHST5, TMEM231
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15523470
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