A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440788



Internal ID15287741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581577..21590891hg38UCSC Ensembl
Innerchr14:21582578..21589891hg38UCSC Ensembl
Outerchr14:21580578..21591890hg38UCSC Ensembl
chr14:22049712..22059010hg19UCSC Ensembl
Innerchr14:22050712..22058010hg19UCSC Ensembl
Outerchr14:22048712..22060010hg19UCSC Ensembl
chr14:21119552..21128850hg18UCSC Ensembl
Innerchr14:21120552..21127850hg18UCSC Ensembl
Outerchr14:21118552..21129850hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389315
hg199299
hg189299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1211e59
Supporting Variantsessv8689478
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440788
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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