A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545871



Internal ID5547687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84427606..84467733hg38UCSC Ensembl
chr16:84461212..84501339hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3840128
hg1940128
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639424
Supporting Variants
SamplesHG00362
Known GenesATP2C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545871
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