A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257572



Internal ID5681567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184638587..184646181hg38UCSC Ensembl
Innerchr3:184638603..184646165hg38UCSC Ensembl
Outerchr3:184638571..184646197hg38UCSC Ensembl
chr3:184356375..184363969hg19UCSC Ensembl
Innerchr3:184356391..184363953hg19UCSC Ensembl
Outerchr3:184356359..184363985hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg387595
hg197595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598954
Supporting Variants
SamplesNA19081
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257572
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