A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380248



Internal ID14880521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49877402..49881000hg38UCSC Ensembl
Innerchr12:49878402..49880000hg38UCSC Ensembl
Outerchr12:49876402..49882000hg38UCSC Ensembl
chr12:50271185..50274783hg19UCSC Ensembl
Innerchr12:50272185..50273783hg19UCSC Ensembl
Outerchr12:50270185..50275783hg19UCSC Ensembl
chr12:48557452..48561050hg18UCSC Ensembl
Innerchr12:48558452..48560050hg18UCSC Ensembl
Outerchr12:48556452..48562050hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383599
hg193599
hg183599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv820e59
Supporting Variantsessv8688725
SamplesNA19239
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380248
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