A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14449372



Internal ID1502440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38703965..38709089hg38UCSC Ensembl
Innerchr12:38703974..38709081hg38UCSC Ensembl
Outerchr12:38703957..38709098hg38UCSC Ensembl
chr12:39097767..39102891hg19UCSC Ensembl
Innerchr12:39097776..39102883hg19UCSC Ensembl
Outerchr12:39097759..39102900hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385125
hg195125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629242
Supporting Variants
SamplesHG01378
Known GenesCPNE8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14449372
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