A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302739



Internal ID14803001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205603562..205603680hg38UCSC Ensembl
Innerchr1:205603621..205603621hg38UCSC Ensembl
Outerchr1:205603462..205603780hg38UCSC Ensembl
chr1:205572690..205572808hg19UCSC Ensembl
Innerchr1:205572749..205572749hg19UCSC Ensembl
Outerchr1:205572590..205572908hg19UCSC Ensembl
chr1:203839313..203839431hg18UCSC Ensembl
Innerchr1:203839372..203839372hg18UCSC Ensembl
Outerchr1:203839213..203839531hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735992, essv7736893, essv7735204, essv7737075, essv7734088, essv7736128, essv7732132, essv7731948, essv7737105, essv7733241, essv7732599, essv7733019, essv7737324, essv7737285, essv7738616, essv7737731, essv7736535, essv7735472, essv7734208, essv7735849, essv7738976, essv7733334
SamplesNA18508, NA10851, NA12414, NA12004, NA19190, NA18870, NA07357, NA11992, NA12287, NA11993, NA18956, NA12144, NA18858, NA18945, NA12043, NA18909, NA19108, NA18517, NA18501, NA19093, NA19129, NA12776
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302739
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer