A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354541



Internal ID14854805
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 StatusM
Merged Variants
Supporting Variantsessv8901865, essv8901862, essv8901852, essv8901860, essv8901872, essv8901853, essv8901859, essv8901856, essv8901850, essv8901849, essv8901867, essv8901861, essv8901866, essv8901873, essv8901864, essv8901857, essv8901863, essv8901854, essv8901870, essv8901868, essv8901851, essv8901871, essv8901855
SamplesNA11830, NA18508, NA12045, NA12751, NA18940, NA18558, NA11918, NA12156, NA12044, NA12828, NA11894, NA18912, NA18532, NA12144, NA18945, NA11881, NA12749, NA19093, NA19129, NA12006, NA07000, NA12154, NA12776
Known GenesPRRX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354541
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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