A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15555128



Internal ID5556944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87299617..87360147hg38UCSC Ensembl
chr16:87333223..87393753hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3860531
hg1960531
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639509
Supporting Variants
SamplesHG04107
Known GenesC16orf95, FBXO31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15555128
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