A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644628



Internal ID6684694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49861781..49908526hg38UCSC Ensembl
chr19:50365038..50411783hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3846746
hg1946746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075246
SamplesHG02298
Known GenesAKT1S1, IL4I1, MIR4750, NUP62, PNKP, TBC1D17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644628
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