A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269180



Internal ID2111225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191007149..191153245hg38UCSC Ensembl
Innerchr3:191007149..191153245hg38UCSC Ensembl
Outerchr3:191006649..191153745hg38UCSC Ensembl
chr3:190724938..190871034hg19UCSC Ensembl
Innerchr3:190724938..190871034hg19UCSC Ensembl
Outerchr3:190724438..190871534hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38146097
hg19146097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599081
Supporting Variants
SamplesHG01920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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