A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304398



Internal ID15151346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226903043..226903044hg38UCSC Ensembl
Innerchr1:226903014..226903073hg38UCSC Ensembl
Outerchr1:226903013..226903074hg38UCSC Ensembl
chr1:227090744..227090745hg19UCSC Ensembl
Innerchr1:227090715..227090774hg19UCSC Ensembl
Outerchr1:227090714..227090775hg19UCSC Ensembl
chr1:225157367..225157368hg18UCSC Ensembl
Innerchr1:225157397..225157338hg18UCSC Ensembl
Outerchr1:225157337..225157398hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750262, essv7753561, essv7742441, essv7741512, essv7763342, essv7754895, essv7746985
SamplesNA18520, NA19239, NA18871, NA18907, NA19114, NA19099, NA18523
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304398
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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