A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350051



Internal ID14850316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114476090..114476102hg38UCSC Ensembl
Innerchr7:114476092..114476100hg38UCSC Ensembl
Outerchr7:114476088..114476104hg38UCSC Ensembl
chr7:114116145..114116157hg19UCSC Ensembl
Innerchr7:114116147..114116155hg19UCSC Ensembl
Outerchr7:114116143..114116159hg19UCSC Ensembl
chr7:113903381..113903393hg18UCSC Ensembl
Innerchr7:113903383..113903391hg18UCSC Ensembl
Outerchr7:113903379..113903395hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864760, essv7864759
SamplesNA18953, NA12005
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350051
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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