A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309360



Internal ID14809624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30967795..30967796hg38UCSC Ensembl
Innerchr12:30967763..30967828hg38UCSC Ensembl
Outerchr12:30967762..30967829hg38UCSC Ensembl
chr12:31120730..31120731hg19UCSC Ensembl
Innerchr12:31120698..31120763hg19UCSC Ensembl
Outerchr12:31120697..31120764hg19UCSC Ensembl
chr12:31011997..31011998hg18UCSC Ensembl
Innerchr12:31012030..31011965hg18UCSC Ensembl
Outerchr12:31011964..31012031hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837110, essv7837329
SamplesNA19239, NA19240
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309360
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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