A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307067



Internal ID14807329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114228813..114228814hg38UCSC Ensembl
Innerchr7:114228780..114228847hg38UCSC Ensembl
Outerchr7:114228779..114228848hg38UCSC Ensembl
chr7:113868868..113868869hg19UCSC Ensembl
Innerchr7:113868835..113868902hg19UCSC Ensembl
Outerchr7:113868834..113868903hg19UCSC Ensembl
chr7:113656104..113656105hg18UCSC Ensembl
Innerchr7:113656138..113656071hg18UCSC Ensembl
Outerchr7:113656070..113656139hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746615, essv7755412, essv7744808, essv7759595, essv7761805, essv7740604, essv7743921, essv7760319, essv7741317
SamplesNA18871, NA18511, NA19108, NA19190, NA19238, NA18504, NA18858, NA10851, NA19116
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307067
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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