A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309255



Internal ID15156205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146566133..146566134hg38UCSC Ensembl
Innerchr6:146566113..146566154hg38UCSC Ensembl
Outerchr6:146566112..146566155hg38UCSC Ensembl
chr6:146887269..146887270hg19UCSC Ensembl
Innerchr6:146887249..146887290hg19UCSC Ensembl
Outerchr6:146887248..146887291hg19UCSC Ensembl
chr6:146928962..146928963hg18UCSC Ensembl
Innerchr6:146928983..146928942hg18UCSC Ensembl
Outerchr6:146928941..146928984hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842599, essv7840806, essv7841049, essv7840063
SamplesNA12891, NA19238, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309255
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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