A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118995



Internal ID4120811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46588803..46594854hg38UCSC Ensembl
chr11:46610353..46616404hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386052
hg196052
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626189
Supporting Variants
SamplesNA18747
Known GenesAMBRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118995
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