A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645905



Internal ID7032653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44264921..44265799hg38UCSC Ensembl
Innerchr20:44264959..44265762hg38UCSC Ensembl
Outerchr20:44264884..44265837hg38UCSC Ensembl
chr20:42893561..42894439hg19UCSC Ensembl
Innerchr20:42893599..42894402hg19UCSC Ensembl
Outerchr20:42893524..42894477hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16193797, essv16193798
SamplesNA18881, NA19190
Known GenesGDAP1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645905
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer