A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738854



Internal ID14232321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182533366..182533367hg38UCSC Ensembl
Outerchr1:182533216..182533517hg38UCSC Ensembl
Innerchr1:182502501..182502502hg19UCSC Ensembl
Outerchr1:182502351..182502652hg19UCSC Ensembl
Innerchr1:180769125..180769124hg18UCSC Ensembl
Outerchr1:180768974..180769275hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302856
Supporting Variants
SamplesNA18952
Known GenesRGSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738854
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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