A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303305



Internal ID15150253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101099062..101099063hg38UCSC Ensembl
Innerchr13:101099035..101099090hg38UCSC Ensembl
Outerchr13:101099034..101099091hg38UCSC Ensembl
chr13:101751413..101751414hg19UCSC Ensembl
Innerchr13:101751386..101751441hg19UCSC Ensembl
Outerchr13:101751385..101751442hg19UCSC Ensembl
chr13:100549414..100549415hg18UCSC Ensembl
Innerchr13:100549442..100549387hg18UCSC Ensembl
Outerchr13:100549386..100549443hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761386, essv7743900, essv7754745, essv7758288, essv7751488, essv7747883, essv7755937, essv7753444, essv7753989, essv7746418, essv7744453, essv7752943, essv7741016, essv7763251
SamplesNA18861, NA18507, NA18498, NA18907, NA18499, NA18853, NA19099, NA19225, NA18858, NA18517, NA19102, NA18505, NA18511, NA18522
Known GenesNALCN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303305
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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