A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14484200



Internal ID1790224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53910394..53922757hg38UCSC Ensembl
Innerchr12:53910894..53922257hg38UCSC Ensembl
Outerchr12:53909394..53923757hg38UCSC Ensembl
chr12:54304178..54316541hg19UCSC Ensembl
Innerchr12:54304678..54316041hg19UCSC Ensembl
Outerchr12:54303178..54317541hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3812364
hg1912364
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629548
Supporting Variants
SamplesHG01672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14484200
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