A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390004



Internal ID14890285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3197825..3199023hg38UCSC Ensembl
Innerchr12:3198023..3198825hg38UCSC Ensembl
Outerchr12:3196825..3200023hg38UCSC Ensembl
chr12:3306991..3308189hg19UCSC Ensembl
Innerchr12:3307189..3307991hg19UCSC Ensembl
Outerchr12:3305991..3309189hg19UCSC Ensembl
chr12:3177252..3178450hg18UCSC Ensembl
Innerchr12:3178252..3177450hg18UCSC Ensembl
Outerchr12:3176252..3179450hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv741e59
Supporting Variantsessv8688677
SamplesNA19240
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390004
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