A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16219118



Internal ID5716728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60180308..60196950hg38UCSC Ensembl
chr20:58755366..58772008hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3816643
hg1916643
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646241
Supporting Variants
SamplesNA19096
Known GenesLOC284757
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16219118
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