A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652055



Internal ID14754733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178108893..178109036hg38UCSC Ensembl
Innerchr1:178108893..178109036hg38UCSC Ensembl
Outerchr1:178108647..178109675hg38UCSC Ensembl
chr1:178078028..178078171hg19UCSC Ensembl
Innerchr1:178078028..178078171hg19UCSC Ensembl
Outerchr1:178077782..178078810hg19UCSC Ensembl
chr1:176344651..176344794hg18UCSC Ensembl
Innerchr1:176344651..176344794hg18UCSC Ensembl
Outerchr1:176344405..176345433hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416886
Supporting Variants
SamplesNA19240
Known GenesRASAL2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652055
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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