A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413875



Internal ID15260834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123510152..123513250hg38UCSC Ensembl
Innerchr12:123511152..123512250hg38UCSC Ensembl
Outerchr12:123509152..123514250hg38UCSC Ensembl
chr12:123994699..123997797hg19UCSC Ensembl
Innerchr12:123995699..123996797hg19UCSC Ensembl
Outerchr12:123993699..123998797hg19UCSC Ensembl
chr12:122560652..122563750hg18UCSC Ensembl
Innerchr12:122561652..122562750hg18UCSC Ensembl
Outerchr12:122559652..122564750hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv927e59
Supporting Variantsessv8688576
SamplesNA19239
Known GenesRILPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer