A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307511



Internal ID15154459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176450536..176450537hg38UCSC Ensembl
Innerchr4:176450479..176450594hg38UCSC Ensembl
Outerchr4:176450478..176450595hg38UCSC Ensembl
chr4:177371687..177371688hg19UCSC Ensembl
Innerchr4:177371630..177371745hg19UCSC Ensembl
Outerchr4:177371629..177371746hg19UCSC Ensembl
chr4:177608681..177608682hg18UCSC Ensembl
Innerchr4:177608739..177608624hg18UCSC Ensembl
Outerchr4:177608623..177608740hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752579, essv7752455
SamplesNA12761, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307511
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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