A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441091



Internal ID14941358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114228816..114228840hg38UCSC Ensembl
Innerchr7:114228817..114228837hg38UCSC Ensembl
Outerchr7:114228795..114228861hg38UCSC Ensembl
chr7:113868871..113868895hg19UCSC Ensembl
Innerchr7:113868872..113868892hg19UCSC Ensembl
Outerchr7:113868850..113868916hg19UCSC Ensembl
chr7:113656107..113656131hg18UCSC Ensembl
Innerchr7:113656128..113656108hg18UCSC Ensembl
Outerchr7:113656086..113656152hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937075, essv8937073, essv8937071, essv8937068, essv8937072, essv8937070, essv8937074, essv8937067
SamplesNA10851, NA18504, NA19190, NA18871, NA18858, NA19108, NA19116, NA18511
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441091
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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