A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388940



Internal ID15235907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121651131..121651150hg38UCSC Ensembl
Innerchr8:121651127..121651154hg38UCSC Ensembl
Outerchr8:121651108..121651173hg38UCSC Ensembl
chr8:122663371..122663390hg19UCSC Ensembl
Innerchr8:122663367..122663394hg19UCSC Ensembl
Outerchr8:122663348..122663413hg19UCSC Ensembl
chr8:122732552..122732571hg18UCSC Ensembl
Innerchr8:122732575..122732548hg18UCSC Ensembl
Outerchr8:122732529..122732594hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9641004, essv9640990, essv9640968, essv9640979
SamplesNA12814, NA07347, NA18970, NA12872
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388940
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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