A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14599218



Internal ID993366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105287195..105287817hg38UCSC Ensembl
Innerchr12:105287196..105287816hg38UCSC Ensembl
Outerchr12:105287194..105287818hg38UCSC Ensembl
chr12:105680973..105681595hg19UCSC Ensembl
Innerchr12:105680974..105681594hg19UCSC Ensembl
Outerchr12:105680972..105681596hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630661
Supporting Variants
SamplesHG00620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14599218
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