A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384108



Internal ID14884387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25314551..25314578hg38UCSC Ensembl
Innerchr6:25314550..25314579hg38UCSC Ensembl
Outerchr6:25314523..25314606hg38UCSC Ensembl
chr6:25314779..25314806hg19UCSC Ensembl
Innerchr6:25314778..25314807hg19UCSC Ensembl
Outerchr6:25314751..25314834hg19UCSC Ensembl
chr6:25422758..25422785hg18UCSC Ensembl
Innerchr6:25422786..25422757hg18UCSC Ensembl
Outerchr6:25422730..25422813hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864560
SamplesNA11992
Known GenesLRRC16A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384108
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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