A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368659



Internal ID15215635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133142393..133167091hg38UCSC Ensembl
Innerchr12:133143393..133166091hg38UCSC Ensembl
Outerchr12:133141393..133168091hg38UCSC Ensembl
chr12:133718979..133743677hg19UCSC Ensembl
Innerchr12:133719979..133742677hg19UCSC Ensembl
Outerchr12:133717979..133744677hg19UCSC Ensembl
chr12:132229052..132253750hg18UCSC Ensembl
Innerchr12:132230052..132252750hg18UCSC Ensembl
Outerchr12:132228052..132254750hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824699
hg1924699
hg1824699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv950e59
Supporting Variantsessv8688648
SamplesNA19240
Known GenesZNF10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368659
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