A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304150



Internal ID15151098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126966448..126966449hg38UCSC Ensembl
Innerchr5:126966404..126966493hg38UCSC Ensembl
Outerchr5:126966403..126966494hg38UCSC Ensembl
chr5:126302140..126302141hg19UCSC Ensembl
Innerchr5:126302096..126302185hg19UCSC Ensembl
Outerchr5:126302095..126302186hg19UCSC Ensembl
chr5:126330039..126330040hg18UCSC Ensembl
Innerchr5:126330084..126329995hg18UCSC Ensembl
Outerchr5:126329994..126330085hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742258, essv7741419, essv7759796, essv7756345, essv7744684, essv7746380, essv7744634, essv7760300, essv7756264
SamplesNA19190, NA18870, NA18519, NA18498, NA19172, NA18871, NA18912, NA18858, NA19116
Known GenesMARCH3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304150
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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