A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329069



Internal ID15176056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206887184..206888382hg38UCSC Ensembl
Innerchr1:206887382..206888184hg38UCSC Ensembl
Outerchr1:206886184..206889382hg38UCSC Ensembl
chr1:207060529..207061727hg19UCSC Ensembl
Innerchr1:207060727..207061529hg19UCSC Ensembl
Outerchr1:207059529..207062727hg19UCSC Ensembl
chr1:205127152..205128350hg18UCSC Ensembl
Innerchr1:205128152..205127350hg18UCSC Ensembl
Outerchr1:205126152..205129350hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692105
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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