A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100466



Internal ID6102282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55084362..55113486hg38UCSC Ensembl
chr19:55595730..55624854hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3829125
hg1929125
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644836
Supporting Variants
SamplesNA18620
Known GenesEPS8L1, PPP1R12C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100466
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