A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307299



Internal ID15154247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50529895..50529896hg38UCSC Ensembl
Innerchr8:50529865..50529926hg38UCSC Ensembl
Outerchr8:50529864..50529927hg38UCSC Ensembl
chr8:51442455..51442456hg19UCSC Ensembl
Innerchr8:51442425..51442486hg19UCSC Ensembl
Outerchr8:51442424..51442487hg19UCSC Ensembl
chr8:51605008..51605009hg18UCSC Ensembl
Innerchr8:51605039..51604978hg18UCSC Ensembl
Outerchr8:51604977..51605040hg18UCSC Ensembl
Cytoband8q11.21
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 Variantsessv7761158, essv7748781, essv7753272, essv7760657, essv7756782, essv7752202, essv7762799, essv7742020, essv7757929, essv7748280, essv7756555, essv7742794, essv7753073
SamplesNA18563, NA18944, NA18940, NA18550, NA11992, NA07347, NA18638, NA10847, NA18956, NA18573, NA18532, NA18576, NA06986
Known GenesSNTG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307299
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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