A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5557612



Internal ID8923570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29224900..29228250hg38UCSC Ensembl
Outerchr13:29224743..29228403hg38UCSC Ensembl
Innerchr13:29799037..29802387hg19UCSC Ensembl
Outerchr13:29798880..29802540hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383661
hg193661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674147
Supporting Variants
SamplesHG00427
Known GenesMTUS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5557612
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