A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393379



Internal ID15240344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100493737..100493772hg38UCSC Ensembl
Innerchr8:100493739..100493770hg38UCSC Ensembl
Outerchr8:100493735..100493774hg38UCSC Ensembl
chr8:101505965..101506000hg19UCSC Ensembl
Innerchr8:101505967..101505998hg19UCSC Ensembl
Outerchr8:101505963..101506002hg19UCSC Ensembl
chr8:101575141..101575176hg18UCSC Ensembl
Innerchr8:101575143..101575174hg18UCSC Ensembl
Outerchr8:101575139..101575178hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864879
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393379
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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