A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5485425



Internal ID8462828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44950882..44951875hg38UCSC Ensembl
chr21:46370797..46371790hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670703
Supporting Variants
SamplesHG01149
Known GenesFAM207A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5485425
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