A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678212



Internal ID9944317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:104349487..104352848hg38UCSC Ensembl
chr13:105001837..105005198hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg383362
hg193362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5909892
SamplesHG00418
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678212
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