A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360756



Internal ID14861018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30969829..30969829hg38UCSC Ensembl
Innerchr12:30969828..30969830hg38UCSC Ensembl
Outerchr12:30969779..30969879hg38UCSC Ensembl
chr12:31122764..31122764hg19UCSC Ensembl
Innerchr12:31122763..31122765hg19UCSC Ensembl
Outerchr12:31122714..31122814hg19UCSC Ensembl
chr12:31014031..31014031hg18UCSC Ensembl
Innerchr12:31014032..31014030hg18UCSC Ensembl
Outerchr12:31013981..31014081hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38775
hg19775
hg18775
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653082, essv8653081, essv8653080
SamplesNA19239, NA19238, NA19240
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360756
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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