A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450192



Internal ID15297140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:106505991..106506010hg38UCSC Ensembl
Innerchr4:106505987..106506014hg38UCSC Ensembl
Outerchr4:106505968..106506033hg38UCSC Ensembl
chr4:107427148..107427167hg19UCSC Ensembl
Innerchr4:107427144..107427171hg19UCSC Ensembl
Outerchr4:107427125..107427190hg19UCSC Ensembl
chr4:107646597..107646616hg18UCSC Ensembl
Innerchr4:107646620..107646593hg18UCSC Ensembl
Outerchr4:107646574..107646639hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9617201
SamplesNA12045
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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