A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303201



Internal ID15150149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175480897..175480898hg38UCSC Ensembl
Innerchr4:175480865..175480930hg38UCSC Ensembl
Outerchr4:175480864..175480931hg38UCSC Ensembl
chr4:176402048..176402049hg19UCSC Ensembl
Innerchr4:176402016..176402081hg19UCSC Ensembl
Outerchr4:176402015..176402082hg19UCSC Ensembl
chr4:176639042..176639043hg18UCSC Ensembl
Innerchr4:176639075..176639010hg18UCSC Ensembl
Outerchr4:176639009..176639076hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760434, essv7752454, essv7763143, essv7758196, essv7740888, essv7758732, essv7754123, essv7747715, essv7746636
SamplesNA19138, NA12761, NA19137, NA18907, NA18853, NA19225, NA19116, NA19129, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303201
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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