A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198983



Internal ID6200799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49788665..49826482hg38UCSC Ensembl
chr20:48405202..48443019hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3837818
hg1937818
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646034
Supporting Variants
SamplesHG01197
Known GenesSLC9A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198983
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