A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310214



Internal ID14810479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29977723..29977724hg38UCSC Ensembl
Innerchr6:29977694..29977753hg38UCSC Ensembl
Outerchr6:29977693..29977754hg38UCSC Ensembl
chr6:29945500..29945501hg19UCSC Ensembl
Innerchr6:29945471..29945530hg19UCSC Ensembl
Outerchr6:29945470..29945531hg19UCSC Ensembl
chr6:30053479..30053480hg18UCSC Ensembl
Innerchr6:30053509..30053450hg18UCSC Ensembl
Outerchr6:30053449..30053510hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837684, essv7837132, essv7838646
SamplesNA19239, NA19238, NA19240
Known GenesHCG9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310214
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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