A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5894344



Internal ID8871747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10334870..10567118hg38UCSC Ensembl
chr21:10945339..11177587hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38232249
hg19232249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661615
Supporting Variants
SamplesHG00177
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5, TPTE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5894344
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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