A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054810



Internal ID6056626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40203124..40288712hg38UCSC Ensembl
chr19:40709031..40794619hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3885589
hg1985589
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644345
Supporting Variants
SamplesNA18967
Known GenesAKT2, CNTD2, MAP3K10, MIR641, TTC9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054810
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