A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305743



Internal ID15152691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74317984..74317985hg38UCSC Ensembl
Innerchr5:74317817..74318152hg38UCSC Ensembl
Outerchr5:74317816..74318153hg38UCSC Ensembl
chr5:73613809..73613810hg19UCSC Ensembl
Innerchr5:73613642..73613977hg19UCSC Ensembl
Outerchr5:73613641..73613978hg19UCSC Ensembl
chr5:73649565..73649566hg18UCSC Ensembl
Innerchr5:73649733..73649398hg18UCSC Ensembl
Outerchr5:73649397..73649734hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742884, essv7760672, essv7754348, essv7761329
SamplesNA11931, NA12287, NA18499, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305743
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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