A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755412



Internal ID14503847
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 StatusS
Merged Variantsesv3307067
Supporting Variants
SamplesNA19108
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755412
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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