A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11444889



Internal ID1700836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:58274786..58284461hg38UCSC Ensembl
Innerchr4:58274797..58284451hg38UCSC Ensembl
Outerchr4:58274776..58284472hg38UCSC Ensembl
chr4:59140952..59150627hg19UCSC Ensembl
Innerchr4:59140963..59150617hg19UCSC Ensembl
Outerchr4:59140942..59150638hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg389676
hg199676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600623
Supporting Variants
SamplesHG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11444889
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