A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3389545



Internal ID15236512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146566130..146566174hg38UCSC Ensembl
Innerchr6:146566149..146566153hg38UCSC Ensembl
Outerchr6:146566105..146566197hg38UCSC Ensembl
chr6:146887266..146887310hg19UCSC Ensembl
Innerchr6:146887285..146887289hg19UCSC Ensembl
Outerchr6:146887241..146887333hg19UCSC Ensembl
chr6:146928959..146929003hg18UCSC Ensembl
Innerchr6:146928982..146928978hg18UCSC Ensembl
Outerchr6:146928934..146929026hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676245, essv8676246
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3389545
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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