A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373508



Internal ID15220483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106497159..106497178hg38UCSC Ensembl
Innerchr12:106497155..106497182hg38UCSC Ensembl
Outerchr12:106497136..106497201hg38UCSC Ensembl
chr12:106890937..106890956hg19UCSC Ensembl
Innerchr12:106890933..106890960hg19UCSC Ensembl
Outerchr12:106890914..106890979hg19UCSC Ensembl
chr12:105415067..105415086hg18UCSC Ensembl
Innerchr12:105415090..105415063hg18UCSC Ensembl
Outerchr12:105415044..105415109hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659580, essv9659591, essv9659569
SamplesNA18970, NA12815, NA12874
Known GenesLOC100287944, POLR3B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373508
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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