A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345720



Internal ID15192704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119010719..119010738hg38UCSC Ensembl
Innerchr1:119010715..119010742hg38UCSC Ensembl
Outerchr1:119010696..119010761hg38UCSC Ensembl
chr1:119553342..119553361hg19UCSC Ensembl
Innerchr1:119553338..119553365hg19UCSC Ensembl
Outerchr1:119553319..119553384hg19UCSC Ensembl
chr1:119354865..119354884hg18UCSC Ensembl
Innerchr1:119354888..119354861hg18UCSC Ensembl
Outerchr1:119354842..119354907hg18UCSC Ensembl
Cytoband1p12
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 Variantsessv9596312, essv9596301
SamplesNA12249, NA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345720
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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