A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307581



Internal ID15154529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47115522..47115523hg38UCSC Ensembl
Innerchr18:47115482..47115563hg38UCSC Ensembl
Outerchr18:47115481..47115564hg38UCSC Ensembl
chr18:44641893..44641894hg19UCSC Ensembl
Innerchr18:44641853..44641934hg19UCSC Ensembl
Outerchr18:44641852..44641935hg19UCSC Ensembl
chr18:42895891..42895892hg18UCSC Ensembl
Innerchr18:42895932..42895851hg18UCSC Ensembl
Outerchr18:42895850..42895933hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38160
hg19160
hg18160
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754440, essv7749905, essv7740892, essv7756623, essv7747330, essv7757989, essv7761200, essv7752301, essv7747639
SamplesNA07357, NA19005, NA18940, NA18960, NA19137, NA18638, NA18605, NA18532, NA18608
Known GenesHDHD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307581
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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