A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604153



Internal ID821309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110940226..110946574hg38UCSC Ensembl
Innerchr12:110940267..110946534hg38UCSC Ensembl
Outerchr12:110940186..110946615hg38UCSC Ensembl
chr12:111378030..111384378hg19UCSC Ensembl
Innerchr12:111378071..111384338hg19UCSC Ensembl
Outerchr12:111377990..111384419hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg386349
hg196349
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630746
Supporting Variants
SamplesHG00407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604153
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