A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214193



Internal ID5604369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76431237..76437516hg38UCSC Ensembl
Innerchr11:76431287..76437442hg38UCSC Ensembl
Outerchr11:76431019..76437734hg38UCSC Ensembl
chr11:76142281..76148560hg19UCSC Ensembl
Innerchr11:76142331..76148486hg19UCSC Ensembl
Outerchr11:76142063..76148778hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg386280
hg196280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626870
Supporting Variants
SamplesNA19036
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214193
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