A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304067



Internal ID15151015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151811653..151811654hg38UCSC Ensembl
Innerchr4:151811635..151811672hg38UCSC Ensembl
Outerchr4:151811634..151811673hg38UCSC Ensembl
chr4:152732805..152732806hg19UCSC Ensembl
Innerchr4:152732787..152732824hg19UCSC Ensembl
Outerchr4:152732786..152732825hg19UCSC Ensembl
chr4:152952255..152952256hg18UCSC Ensembl
Innerchr4:152952274..152952237hg18UCSC Ensembl
Outerchr4:152952236..152952275hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386025
hg196025
hg186025
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7819259, essv7770524, essv7817441, essv7774086, essv7808547, essv7824619, essv7813609, essv7789372, essv7777409
SamplesNA11995, NA11920, NA12004, NA12750, NA11918, NA12815, NA10847, NA12874, NA12763
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304067
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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