A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11011068



Internal ID5510048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50738172..50743810hg38UCSC Ensembl
Innerchr3:50738172..50743810hg38UCSC Ensembl
Outerchr3:50737672..50744310hg38UCSC Ensembl
chr3:50775603..50781241hg19UCSC Ensembl
Innerchr3:50775603..50781241hg19UCSC Ensembl
Outerchr3:50775103..50781741hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg385639
hg195639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596146
Supporting Variants
SamplesNA18988
Known GenesDOCK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11011068
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