A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332882



Internal ID15179869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110347164..110349862hg38UCSC Ensembl
Innerchr12:110348164..110348862hg38UCSC Ensembl
Outerchr12:110346164..110350862hg38UCSC Ensembl
chr12:110784969..110787667hg19UCSC Ensembl
Innerchr12:110785969..110786667hg19UCSC Ensembl
Outerchr12:110783969..110788667hg19UCSC Ensembl
chr12:109269352..109272050hg18UCSC Ensembl
Innerchr12:109270352..109271050hg18UCSC Ensembl
Outerchr12:109268352..109273050hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688546
SamplesNA19239
Known GenesATP2A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332882
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