A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14476867



Internal ID4643090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49235227..49239493hg38UCSC Ensembl
Innerchr12:49235257..49239463hg38UCSC Ensembl
Outerchr12:49235197..49239523hg38UCSC Ensembl
chr12:49629010..49633276hg19UCSC Ensembl
Innerchr12:49629040..49633246hg19UCSC Ensembl
Outerchr12:49628980..49633306hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384267
hg194267
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629451
Supporting Variants
SamplesHG04176
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14476867
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