A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432686



Internal ID15279642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110120446..110120838hg38UCSC Ensembl
Innerchr1:110120446..110120838hg38UCSC Ensembl
Outerchr1:110120324..110121033hg38UCSC Ensembl
chr1:110663068..110663460hg19UCSC Ensembl
Innerchr1:110663068..110663460hg19UCSC Ensembl
Outerchr1:110662946..110663655hg19UCSC Ensembl
chr1:110464591..110464983hg18UCSC Ensembl
Innerchr1:110464591..110464983hg18UCSC Ensembl
Outerchr1:110464469..110465178hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38393
hg19393
hg18393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652035
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432686
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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