A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302979



Internal ID15149927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227414418..227414586hg38UCSC Ensembl
Innerchr1:227414502..227414502hg38UCSC Ensembl
Outerchr1:227414318..227414686hg38UCSC Ensembl
chr1:227602119..227602287hg19UCSC Ensembl
Innerchr1:227602203..227602203hg19UCSC Ensembl
Outerchr1:227602019..227602387hg19UCSC Ensembl
chr1:225668742..225668910hg18UCSC Ensembl
Innerchr1:225668826..225668826hg18UCSC Ensembl
Outerchr1:225668642..225669010hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv293e59
Supporting Variantsessv7732684, essv7736032, essv7734255, essv7738027, essv7734922, essv7733838, essv7738835, essv7734542
SamplesNA12717, NA12750, NA18558, NA11918, NA12878, NA12892, NA07051, NA12763
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302979
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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