A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306926



Internal ID14807188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:90317500..90317501hg38UCSC Ensembl
Innerchr7:90317482..90317519hg38UCSC Ensembl
Outerchr7:90317481..90317520hg38UCSC Ensembl
chr7:89946814..89946815hg19UCSC Ensembl
Innerchr7:89946796..89946833hg19UCSC Ensembl
Outerchr7:89946795..89946834hg19UCSC Ensembl
chr7:89784750..89784751hg18UCSC Ensembl
Innerchr7:89784769..89784732hg18UCSC Ensembl
Outerchr7:89784731..89784770hg18UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7800724, essv7770288, essv7794177, essv7805059, essv7835761, essv7806539, essv7787747
SamplesNA12155, NA12761, NA11831, NA12489, NA18566, NA12249, NA12892
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306926
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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