A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303550



Internal ID14803812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180724606..180724607hg38UCSC Ensembl
Innerchr1:180724571..180724642hg38UCSC Ensembl
Outerchr1:180724570..180724643hg38UCSC Ensembl
chr1:180693742..180693743hg19UCSC Ensembl
Innerchr1:180693707..180693778hg19UCSC Ensembl
Outerchr1:180693706..180693779hg19UCSC Ensembl
chr1:178960365..178960366hg18UCSC Ensembl
Innerchr1:178960401..178960330hg18UCSC Ensembl
Outerchr1:178960329..178960402hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745510, essv7759292
SamplesNA19147, NA18508
Known GenesXPR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303550
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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