A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303429



Internal ID15150377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994593..36994594hg38UCSC Ensembl
Innerchr13:36994563..36994624hg38UCSC Ensembl
Outerchr13:36994562..36994625hg38UCSC Ensembl
chr13:37568730..37568731hg19UCSC Ensembl
Innerchr13:37568700..37568761hg19UCSC Ensembl
Outerchr13:37568699..37568762hg19UCSC Ensembl
chr13:36466730..36466731hg18UCSC Ensembl
Innerchr13:36466761..36466700hg18UCSC Ensembl
Outerchr13:36466699..36466762hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749345, essv7760201, essv7753979, essv7749533, essv7745471, essv7744496, essv7759837, essv7755073, essv7758815, essv7759042, essv7743896, essv7762291, essv7741031, essv7743235, essv7742287, essv7761431, essv7761793, essv7749241
SamplesNA18508, NA18519, NA18489, NA18916, NA18498, NA19238, NA19172, NA18516, NA18499, NA18856, NA18853, NA18523, NA19147, NA18517, NA18501, NA19093, NA19129, NA18511
Known GenesALG5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303429
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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