A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419248



Internal ID15266206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57511702..57513300hg38UCSC Ensembl
Innerchr12:57512300..57512702hg38UCSC Ensembl
Outerchr12:57510702..57514300hg38UCSC Ensembl
chr12:57905485..57907083hg19UCSC Ensembl
Innerchr12:57906083..57906485hg19UCSC Ensembl
Outerchr12:57904485..57908083hg19UCSC Ensembl
chr12:56191752..56193350hg18UCSC Ensembl
Innerchr12:56192752..56192350hg18UCSC Ensembl
Outerchr12:56190752..56194350hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688730
SamplesNA19239
Known GenesMARS, MIR6758
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419248
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