A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676245



Internal ID13645062
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 StatusS
Merged Variantsesv3389545
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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