A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388362



Internal ID14888644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49877515..49877625hg38UCSC Ensembl
Innerchr12:49877522..49877618hg38UCSC Ensembl
Outerchr12:49877508..49877632hg38UCSC Ensembl
chr12:50271298..50271408hg19UCSC Ensembl
Innerchr12:50271305..50271401hg19UCSC Ensembl
Outerchr12:50271291..50271415hg19UCSC Ensembl
chr12:48557565..48557675hg18UCSC Ensembl
Innerchr12:48557572..48557668hg18UCSC Ensembl
Outerchr12:48557558..48557682hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670564, essv8670559, essv8670558, essv8670562, essv8670561, essv8670560
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388362
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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