A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618507



Internal ID4620323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120458358..120459164hg38UCSC Ensembl
Innerchr12:120458508..120459014hg38UCSC Ensembl
Outerchr12:120458208..120459314hg38UCSC Ensembl
chr12:120896161..120896967hg19UCSC Ensembl
Innerchr12:120896311..120896817hg19UCSC Ensembl
Outerchr12:120896011..120897117hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630924
Supporting Variants
SamplesNA18534
Known GenesGATC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618507
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