A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7748896



Internal ID14154511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75405730..75405731hg38UCSC Ensembl
Innerchr8:75405696..75405765hg38UCSC Ensembl
Outerchr8:75405695..75405766hg38UCSC Ensembl
chr8:76317965..76317966hg19UCSC Ensembl
Innerchr8:76317931..76318000hg19UCSC Ensembl
Outerchr8:76317930..76318001hg19UCSC Ensembl
chr8:76480520..76480521hg18UCSC Ensembl
Innerchr8:76480555..76480486hg18UCSC Ensembl
Outerchr8:76480485..76480556hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305686
Supporting Variants
SamplesNA18571
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7748896
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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