A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384163



Internal ID15231133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30007408..30007424hg38UCSC Ensembl
Innerchr8:30007380..30007452hg38UCSC Ensembl
Outerchr8:30007364..30007468hg38UCSC Ensembl
chr8:29864924..29864940hg19UCSC Ensembl
Innerchr8:29864896..29864968hg19UCSC Ensembl
Outerchr8:29864880..29864984hg19UCSC Ensembl
chr8:29984466..29984482hg18UCSC Ensembl
Innerchr8:29984510..29984438hg18UCSC Ensembl
Outerchr8:29984422..29984526hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864827
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384163
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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