A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14230906



Internal ID5243842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90130184..90148445hg38UCSC Ensembl
Innerchr11:90130184..90148445hg38UCSC Ensembl
Outerchr11:90129684..90148945hg38UCSC Ensembl
chr11:89863352..89881613hg19UCSC Ensembl
Innerchr11:89863352..89881613hg19UCSC Ensembl
Outerchr11:89862852..89882113hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3818262
hg1918262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627188
Supporting Variants
SamplesNA18631
Known GenesNAALAD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14230906
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