A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357749



Internal ID15204728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102867904..102867904hg38UCSC Ensembl
Innerchr8:102867903..102867905hg38UCSC Ensembl
Outerchr8:102867844..102867954hg38UCSC Ensembl
chr8:103880132..103880132hg19UCSC Ensembl
Innerchr8:103880131..103880133hg19UCSC Ensembl
Outerchr8:103880072..103880182hg19UCSC Ensembl
chr8:103949308..103949308hg18UCSC Ensembl
Innerchr8:103949309..103949307hg18UCSC Ensembl
Outerchr8:103949248..103949358hg18UCSC Ensembl
Cytoband8q22.3
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 Variantsessv8841561
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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