A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302452



Internal ID14802713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453218..229453401hg38UCSC Ensembl
Innerchr1:229453309..229453309hg38UCSC Ensembl
Outerchr1:229453118..229453501hg38UCSC Ensembl
chr1:229588965..229589148hg19UCSC Ensembl
Innerchr1:229589056..229589056hg19UCSC Ensembl
Outerchr1:229588865..229589248hg19UCSC Ensembl
chr1:227655588..227655771hg18UCSC Ensembl
Innerchr1:227655679..227655679hg18UCSC Ensembl
Outerchr1:227655488..227655871hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38184
hg19184
hg18184
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv299e59
Supporting Variantsessv7730970, essv7731641
SamplesNA19238, NA19240
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302452
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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