A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379471



Internal ID14879743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453228..229453409hg38UCSC Ensembl
Innerchr1:229453235..229453400hg38UCSC Ensembl
Outerchr1:229453219..229453416hg38UCSC Ensembl
chr1:229588975..229589156hg19UCSC Ensembl
Innerchr1:229588982..229589147hg19UCSC Ensembl
Outerchr1:229588966..229589163hg19UCSC Ensembl
chr1:227655598..227655779hg18UCSC Ensembl
Innerchr1:227655605..227655770hg18UCSC Ensembl
Outerchr1:227655589..227655786hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670868, essv8670867
SamplesNA19238, NA19240
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379471
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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