A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302488



Internal ID14802749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12966063..12966181hg38UCSC Ensembl
Innerchr10:12966122..12966122hg38UCSC Ensembl
Outerchr10:12965963..12966281hg38UCSC Ensembl
chr10:13008063..13008181hg19UCSC Ensembl
Innerchr10:13008122..13008122hg19UCSC Ensembl
Outerchr10:13007963..13008281hg19UCSC Ensembl
chr10:13048069..13048187hg18UCSC Ensembl
Innerchr10:13048128..13048128hg18UCSC Ensembl
Outerchr10:13047969..13048287hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731520
SamplesNA12878
Known GenesCCDC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302488
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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