A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16164052



Internal ID6165868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24879101..25011663hg38UCSC Ensembl
chr20:24859737..24992299hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38132563
hg19132563
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645567
Supporting Variants
SamplesNA19454
Known GenesACSS1, APMAP, CST7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16164052
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