A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599048



Internal ID6986096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189126062..189131664hg38UCSC Ensembl
Innerchr3:189126125..189131602hg38UCSC Ensembl
Outerchr3:189126000..189131727hg38UCSC Ensembl
chr3:188843851..188849453hg19UCSC Ensembl
Innerchr3:188843914..188849391hg19UCSC Ensembl
Outerchr3:188843789..188849516hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg385603
hg195603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11265055
SamplesHG01841
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599048
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