A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400900



Internal ID15247863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130763854..130767052hg38UCSC Ensembl
Innerchr12:130764854..130766052hg38UCSC Ensembl
Outerchr12:130762854..130768052hg38UCSC Ensembl
chr12:131248399..131251597hg19UCSC Ensembl
Innerchr12:131249399..131250597hg19UCSC Ensembl
Outerchr12:131247399..131252597hg19UCSC Ensembl
chr12:129814352..129817550hg18UCSC Ensembl
Innerchr12:129815352..129816550hg18UCSC Ensembl
Outerchr12:129813352..129818550hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv941e59
Supporting Variantsessv8688612
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400900
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