A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440089



Internal ID15287042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994592..36994606hg38UCSC Ensembl
Innerchr13:36994583..36994613hg38UCSC Ensembl
Outerchr13:36994569..36994627hg38UCSC Ensembl
chr13:37568729..37568743hg19UCSC Ensembl
Innerchr13:37568720..37568750hg19UCSC Ensembl
Outerchr13:37568706..37568764hg19UCSC Ensembl
chr13:36466729..36466743hg18UCSC Ensembl
Innerchr13:36466750..36466720hg18UCSC Ensembl
Outerchr13:36466706..36466764hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959888, essv8959890, essv8959889, essv8959884, essv8959878, essv8959886, essv8959895, essv8959881, essv8959885, essv8959894, essv8959879, essv8959882, essv8959887, essv8959896, essv8959883, essv8959877, essv8959876
SamplesNA18508, NA18519, NA18489, NA18916, NA18498, 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)esv3440089
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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