A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303497



Internal ID15150445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53753317..53753318hg38UCSC Ensembl
Innerchr20:53753289..53753346hg38UCSC Ensembl
Outerchr20:53753288..53753347hg38UCSC Ensembl
chr20:52369856..52369857hg19UCSC Ensembl
Innerchr20:52369828..52369885hg19UCSC Ensembl
Outerchr20:52369827..52369886hg19UCSC Ensembl
chr20:51803263..51803264hg18UCSC Ensembl
Innerchr20:51803292..51803235hg18UCSC Ensembl
Outerchr20:51803234..51803293hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741405, essv7753325, essv7753957, essv7743902, essv7751572
SamplesNA18507, NA18871, NA18853, NA19099, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303497
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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