A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14349808



Internal ID4351624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7847526..8064130hg38UCSC Ensembl
chr12:8000122..8216726hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38216605
hg19216605
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628445
Supporting Variants
SamplesNA18950
Known GenesC3AR1, FOXJ2, SLC2A14, SLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14349808
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer