A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631059



Internal ID7017874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126249820..126388933hg38UCSC Ensembl
chr12:126734366..126873479hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38139114
hg19139114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14624784
SamplesHG03916
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631059
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