A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344570



Internal ID14844837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90317497..90317517hg38UCSC Ensembl
Innerchr7:90317494..90317518hg38UCSC Ensembl
Outerchr7:90317476..90317538hg38UCSC Ensembl
chr7:89946811..89946831hg19UCSC Ensembl
Innerchr7:89946808..89946832hg19UCSC Ensembl
Outerchr7:89946790..89946852hg19UCSC Ensembl
chr7:89784747..89784767hg18UCSC Ensembl
Innerchr7:89784768..89784744hg18UCSC Ensembl
Outerchr7:89784726..89784788hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936295, essv8936299, essv8936298, essv8936296, essv8936297, essv8936300
SamplesNA12155, NA12761, NA11831, NA12489, NA18566, NA12249
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344570
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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