A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303098



Internal ID15150046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50375240..50390315hg38UCSC Ensembl
Innerchr12:50375340..50390215hg38UCSC Ensembl
Outerchr12:50375140..50390415hg38UCSC Ensembl
chr12:50769023..50784098hg19UCSC Ensembl
Innerchr12:50769123..50783998hg19UCSC Ensembl
Outerchr12:50768923..50784198hg19UCSC Ensembl
chr12:49055290..49070365hg18UCSC Ensembl
Innerchr12:49055390..49070265hg18UCSC Ensembl
Outerchr12:49055190..49070465hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3815076
hg1915076
hg1815076
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732845
SamplesNA18948
Known GenesFAM186A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303098
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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