A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307871



Internal ID15154819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121651130..121651131hg38UCSC Ensembl
Innerchr8:121651108..121651153hg38UCSC Ensembl
Outerchr8:121651107..121651154hg38UCSC Ensembl
chr8:122663370..122663371hg19UCSC Ensembl
Innerchr8:122663348..122663393hg19UCSC Ensembl
Outerchr8:122663347..122663394hg19UCSC Ensembl
chr8:122732551..122732552hg18UCSC Ensembl
Innerchr8:122732574..122732529hg18UCSC Ensembl
Outerchr8:122732528..122732575hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763937, essv7767446, essv7766521, essv7763401, essv7768453
SamplesNA12814, NA07347, NA18970, NA12872, NA12043
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307871
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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