A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303471



Internal ID15150419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72405813..72405814hg38UCSC Ensembl
Innerchr3:72405779..72405848hg38UCSC Ensembl
Outerchr3:72405778..72405849hg38UCSC Ensembl
chr3:72454964..72454965hg19UCSC Ensembl
Innerchr3:72454930..72454999hg19UCSC Ensembl
Outerchr3:72454929..72455000hg19UCSC Ensembl
chr3:72537654..72537655hg18UCSC Ensembl
Innerchr3:72537689..72537620hg18UCSC Ensembl
Outerchr3:72537619..72537690hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38143
hg19143
hg18143
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752762, essv7758220, essv7754965, essv7741438, essv7743184, essv7749502, essv7746810, essv7754695, essv7758403
SamplesNA18861, NA18916, NA19138, NA18516, NA18871, NA18523, NA18909, NA18505, NA18522
Known GenesRYBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303471
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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