A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404570



Internal ID14904846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451706..182451722hg38UCSC Ensembl
Innerchr1:182451699..182451727hg38UCSC Ensembl
Outerchr1:182451685..182451743hg38UCSC Ensembl
chr1:182420841..182420857hg19UCSC Ensembl
Innerchr1:182420834..182420862hg19UCSC Ensembl
Outerchr1:182420820..182420878hg19UCSC Ensembl
chr1:180687464..180687480hg18UCSC Ensembl
Innerchr1:180687485..180687457hg18UCSC Ensembl
Outerchr1:180687443..180687501hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673822, essv8673823, essv8673824
SamplesNA19238, NA12891, NA12878
Known GenesRGSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404570
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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