A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302826



Internal ID15149774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451356..182451483hg38UCSC Ensembl
Innerchr1:182451419..182451419hg38UCSC Ensembl
Outerchr1:182451256..182451583hg38UCSC Ensembl
chr1:182420491..182420618hg19UCSC Ensembl
Innerchr1:182420554..182420554hg19UCSC Ensembl
Outerchr1:182420391..182420718hg19UCSC Ensembl
chr1:180687114..180687241hg18UCSC Ensembl
Innerchr1:180687177..180687177hg18UCSC Ensembl
Outerchr1:180687014..180687341hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731915, essv7734362, essv7738167, essv7733215, essv7736307, essv7731731, essv7737066, essv7732068, essv7738597, essv7733320
SamplesNA11830, NA12004, NA07357, NA12249, NA12043, NA18608, NA18943, NA18562, NA12776, NA18965
Known GenesRGSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302826
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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