A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864544



Internal ID13317070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175371124..175371136hg38UCSC Ensembl
Innerchr5:175371126..175371134hg38UCSC Ensembl
Outerchr5:175371122..175371138hg38UCSC Ensembl
chr5:174798127..174798139hg19UCSC Ensembl
Innerchr5:174798129..174798137hg19UCSC Ensembl
Outerchr5:174798125..174798141hg19UCSC Ensembl
chr5:174730733..174730745hg18UCSC Ensembl
Innerchr5:174730735..174730743hg18UCSC Ensembl
Outerchr5:174730731..174730747hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334709
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864544
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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