A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309730



Internal ID15156681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60282287..60282288hg38UCSC Ensembl
Innerchr8:60282260..60282315hg38UCSC Ensembl
Outerchr8:60282259..60282316hg38UCSC Ensembl
chr8:61194846..61194847hg19UCSC Ensembl
Innerchr8:61194819..61194874hg19UCSC Ensembl
Outerchr8:61194818..61194875hg19UCSC Ensembl
chr8:61357400..61357401hg18UCSC Ensembl
Innerchr8:61357428..61357373hg18UCSC Ensembl
Outerchr8:61357372..61357429hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836951
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309730
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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