A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323066



Internal ID15170040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37375842..37375855hg38UCSC Ensembl
Innerchr13:37375834..37375863hg38UCSC Ensembl
Outerchr13:37375821..37375876hg38UCSC Ensembl
chr13:37949979..37949992hg19UCSC Ensembl
Innerchr13:37949971..37950000hg19UCSC Ensembl
Outerchr13:37949958..37950013hg19UCSC Ensembl
chr13:36847979..36847992hg18UCSC Ensembl
Innerchr13:36848000..36847971hg18UCSC Ensembl
Outerchr13:36847958..36848013hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38196
hg19196
hg18196
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959924, essv8959925, essv8959927, essv8959898, essv8959931, essv8959933, essv8959899, essv8959928, essv8959917, essv8959913, essv8959923, essv8959911, essv8959940, essv8959905, essv8959934, essv8959938, essv8959902, essv8959932, essv8959918, essv8959935, essv8959901, essv8959907, essv8959910, essv8959941, essv8959912, essv8959909, essv8959921, essv8959922, essv8959914, essv8959930, essv8959929, essv8959936, essv8959897, essv8959900, essv8959939, essv8959903, essv8959916, essv8959919, essv8959908, essv8959920, essv8959906
SamplesNA18947, NA11829, NA12414, NA11920, NA11931, NA18603, NA12045, NA12751, NA18526, NA12750, NA07346, NA19005, NA18940, NA18550, NA18489, NA18571, NA19138, NA11994, NA12828, NA18973, NA18638, NA11831, NA18871, NA11919, NA12249, NA19099, NA19257, NA18555, NA18570, NA18858, NA18576, NA12043, NA18909, NA18961, NA18943, NA06986, NA12749, NA19093, NA19129, NA07000, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323066
Frequency
Sample Size185
Observed Gain41
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer