A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603706



Internal ID4605522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108624808..108626331hg38UCSC Ensembl
Innerchr12:108624808..108626331hg38UCSC Ensembl
Outerchr12:108624757..108626436hg38UCSC Ensembl
chr12:109018584..109020107hg19UCSC Ensembl
Innerchr12:109018584..109020107hg19UCSC Ensembl
Outerchr12:109018533..109020212hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630708
Supporting Variants
SamplesHG03741
Known GenesSELPLG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603706
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