A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8901862



Internal ID14083294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170682303..170682331hg38UCSC Ensembl
Innerchr1:170682292..170682340hg38UCSC Ensembl
Outerchr1:170682264..170682368hg38UCSC Ensembl
chr1:170651444..170651472hg19UCSC Ensembl
Innerchr1:170651433..170651481hg19UCSC Ensembl
Outerchr1:170651405..170651509hg19UCSC Ensembl
chr1:168918068..168918096hg18UCSC Ensembl
Innerchr1:168918105..168918057hg18UCSC Ensembl
Outerchr1:168918029..168918133hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3354541
Supporting Variants
SamplesNA18912
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8901862
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