A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448549



Internal ID15295498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47272172..47272191hg38UCSC Ensembl
Innerchr1:47272168..47272195hg38UCSC Ensembl
Outerchr1:47272149..47272214hg38UCSC Ensembl
chr1:47737844..47737863hg19UCSC Ensembl
Innerchr1:47737840..47737867hg19UCSC Ensembl
Outerchr1:47737821..47737886hg19UCSC Ensembl
chr1:47510431..47510450hg18UCSC Ensembl
Innerchr1:47510454..47510427hg18UCSC Ensembl
Outerchr1:47510408..47510473hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678407
SamplesNA12878
Known GenesSTIL
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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