A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325460



Internal ID15172442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:69396189..69396205hg38UCSC Ensembl
Innerchr6:69396187..69396205hg38UCSC Ensembl
Outerchr6:69396171..69396223hg38UCSC Ensembl
chr6:70106081..70106097hg19UCSC Ensembl
Innerchr6:70106079..70106097hg19UCSC Ensembl
Outerchr6:70106063..70106115hg19UCSC Ensembl
chr6:70162802..70162818hg18UCSC Ensembl
Innerchr6:70162818..70162800hg18UCSC Ensembl
Outerchr6:70162784..70162836hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8930464, essv8930461, essv8930460, essv8930465, essv8930463, essv8930462
SamplesNA18510, NA19225, NA18858, NA19147, NA18517, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325460
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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