A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787747



Internal ID13080500
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 StatusS
Merged Variantsesv3306926
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787747
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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