A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302856



Internal ID14803118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182533315..182533417hg38UCSC Ensembl
Innerchr1:182533366..182533366hg38UCSC Ensembl
Outerchr1:182533215..182533517hg38UCSC Ensembl
chr1:182502450..182502552hg19UCSC Ensembl
Innerchr1:182502501..182502501hg19UCSC Ensembl
Outerchr1:182502350..182502652hg19UCSC Ensembl
chr1:180769073..180769175hg18UCSC Ensembl
Innerchr1:180769124..180769124hg18UCSC Ensembl
Outerchr1:180768973..180769275hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735886, essv7735228, essv7737405, essv7734452, essv7737738, essv7733926, essv7738854, essv7738071, essv7732723
SamplesNA18861, NA18916, NA19138, NA18949, NA12044, NA18579, NA18858, NA18952, NA19129
Known GenesRGSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302856
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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