A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731915



Internal ID14337613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182451419..182451420hg38UCSC Ensembl
Outerchr1:182451257..182451583hg38UCSC Ensembl
Innerchr1:182420554..182420555hg19UCSC Ensembl
Outerchr1:182420392..182420718hg19UCSC Ensembl
Innerchr1:180687178..180687177hg18UCSC Ensembl
Outerchr1:180687015..180687341hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302826
Supporting Variants
SamplesNA18965
Known GenesRGSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731915
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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