A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417628



Internal ID14917900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179681624..179681994hg38UCSC Ensembl
Innerchr1:179681623..179681995hg38UCSC Ensembl
Outerchr1:179681514..179682114hg38UCSC Ensembl
chr1:179650759..179651129hg19UCSC Ensembl
Innerchr1:179650758..179651130hg19UCSC Ensembl
Outerchr1:179650649..179651249hg19UCSC Ensembl
chr1:177917382..177917752hg18UCSC Ensembl
Innerchr1:177917753..177917381hg18UCSC Ensembl
Outerchr1:177917272..177917872hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38371
hg19371
hg18371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808934
SamplesNA12878
Known GenesTDRD5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417628
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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