A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8900544



Internal ID14405320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103230923..103230959hg38UCSC Ensembl
Innerchr1:103230927..103230953hg38UCSC Ensembl
Outerchr1:103230893..103230989hg38UCSC Ensembl
chr1:103696479..103696515hg19UCSC Ensembl
Innerchr1:103696483..103696509hg19UCSC Ensembl
Outerchr1:103696449..103696545hg19UCSC Ensembl
chr1:103469067..103469103hg18UCSC Ensembl
Innerchr1:103469097..103469071hg18UCSC Ensembl
Outerchr1:103469037..103469133hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360314
Supporting Variants
SamplesNA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8900544
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