A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307746



Internal ID14808008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325545..28325546hg38UCSC Ensembl
Innerchr6:28325505..28325586hg38UCSC Ensembl
Outerchr6:28325504..28325587hg38UCSC Ensembl
chr6:28293322..28293323hg19UCSC Ensembl
Innerchr6:28293282..28293363hg19UCSC Ensembl
Outerchr6:28293281..28293364hg19UCSC Ensembl
chr6:28401301..28401302hg18UCSC Ensembl
Innerchr6:28401342..28401261hg18UCSC Ensembl
Outerchr6:28401260..28401343hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749280, essv7746491, essv7750129, essv7745880
SamplesNA19239, NA18856, NA18858, NA19240
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307746
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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