A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399491



Internal ID15246454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69461787..69461806hg38UCSC Ensembl
Innerchr12:69461783..69461810hg38UCSC Ensembl
Outerchr12:69461764..69461829hg38UCSC Ensembl
chr12:69855567..69855586hg19UCSC Ensembl
Innerchr12:69855563..69855590hg19UCSC Ensembl
Outerchr12:69855544..69855609hg19UCSC Ensembl
chr12:68141834..68141853hg18UCSC Ensembl
Innerchr12:68141857..68141830hg18UCSC Ensembl
Outerchr12:68141811..68141876hg18UCSC Ensembl
Cytoband12q15
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 Variantsessv8677896
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399491
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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