A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11225513



Internal ID533390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171534188..171536500hg38UCSC Ensembl
Innerchr3:171534338..171536350hg38UCSC Ensembl
Outerchr3:171534038..171536650hg38UCSC Ensembl
chr3:171251977..171254289hg19UCSC Ensembl
Innerchr3:171252127..171254139hg19UCSC Ensembl
Outerchr3:171251827..171254439hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg382313
hg192313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598649
Supporting Variants
SamplesHG00232
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11225513
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