A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307239



Internal ID14807501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79637555..79637556hg38UCSC Ensembl
Innerchr12:79637521..79637590hg38UCSC Ensembl
Outerchr12:79637520..79637591hg38UCSC Ensembl
chr12:80031335..80031336hg19UCSC Ensembl
Innerchr12:80031301..80031370hg19UCSC Ensembl
Outerchr12:80031300..80031371hg19UCSC Ensembl
chr12:78555466..78555467hg18UCSC Ensembl
Innerchr12:78555501..78555432hg18UCSC Ensembl
Outerchr12:78555431..78555502hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754670, essv7761428, essv7749451, essv7742346
SamplesNA18861, NA18516, NA18499, NA18519
Known GenesPAWR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307239
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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