A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309736



Internal ID15156687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224588901..224588902hg38UCSC Ensembl
Innerchr1:224588874..224588929hg38UCSC Ensembl
Outerchr1:224588873..224588930hg38UCSC Ensembl
chr1:224776603..224776604hg19UCSC Ensembl
Innerchr1:224776576..224776631hg19UCSC Ensembl
Outerchr1:224776575..224776632hg19UCSC Ensembl
chr1:222843226..222843227hg18UCSC Ensembl
Innerchr1:222843254..222843199hg18UCSC Ensembl
Outerchr1:222843198..222843255hg18UCSC Ensembl
Cytoband1q42.12
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 Variantsessv7836829, essv7838910
SamplesNA19238, NA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309736
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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