A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14305152



Internal ID5033948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127405100..127410110hg38UCSC Ensembl
Innerchr11:127405100..127410110hg38UCSC Ensembl
Outerchr11:127404853..127410300hg38UCSC Ensembl
chr11:127274995..127280005hg19UCSC Ensembl
Innerchr11:127274995..127280005hg19UCSC Ensembl
Outerchr11:127274748..127280195hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg385011
hg195011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628023
Supporting Variants
SamplesNA18522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14305152
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