A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679279



Internal ID13672244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66428167..66428186hg38UCSC Ensembl
Innerchr7:66428163..66428190hg38UCSC Ensembl
Outerchr7:66428144..66428209hg38UCSC Ensembl
chr7:65893154..65893173hg19UCSC Ensembl
Innerchr7:65893150..65893177hg19UCSC Ensembl
Outerchr7:65893131..65893196hg19UCSC Ensembl
chr7:65530589..65530608hg18UCSC Ensembl
Innerchr7:65530612..65530585hg18UCSC Ensembl
Outerchr7:65530566..65530631hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417247
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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