A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630315



Internal ID7017134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89353643..89359770hg38UCSC Ensembl
Innerchr12:89353643..89359770hg38UCSC Ensembl
Outerchr12:89353467..89359997hg38UCSC Ensembl
chr12:89747420..89753547hg19UCSC Ensembl
Innerchr12:89747420..89753547hg19UCSC Ensembl
Outerchr12:89747244..89753774hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386128
hg196128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565611, essv14565610, essv14565608, essv14565612, essv14565613, essv14565609
SamplesNA19307, NA19024, HG02445, NA19338, NA19440, HG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630315
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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