A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11614945



Internal ID4153413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:134386965..134388242hg38UCSC Ensembl
Innerchr4:134386973..134388235hg38UCSC Ensembl
Outerchr4:134386958..134388250hg38UCSC Ensembl
chr4:135308120..135309397hg19UCSC Ensembl
Innerchr4:135308128..135309390hg19UCSC Ensembl
Outerchr4:135308113..135309405hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602307
Supporting Variants
SamplesHG03756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11614945
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