A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14503089



Internal ID6906820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60461482..60575766hg38UCSC Ensembl
chr12:60855263..60969547hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38114285
hg19114285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629686
Supporting Variants
SamplesNA21112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14503089
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