A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14553296



Internal ID6101502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84069567..84226087hg38UCSC Ensembl
chr12:84463346..84619866hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38156521
hg19156521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630205
Supporting Variants
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14553296
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