A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399391



Internal ID15246354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101099061..101099073hg38UCSC Ensembl
Innerchr13:101099055..101099077hg38UCSC Ensembl
Outerchr13:101099043..101099091hg38UCSC Ensembl
chr13:101751412..101751424hg19UCSC Ensembl
Innerchr13:101751406..101751428hg19UCSC Ensembl
Outerchr13:101751394..101751442hg19UCSC Ensembl
chr13:100549413..100549425hg18UCSC Ensembl
Innerchr13:100549429..100549407hg18UCSC Ensembl
Outerchr13:100549395..100549443hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8963966, essv8963963, essv8963965, essv8963957, essv8963972, essv8963961, essv8963967, essv8963964, essv8963969, essv8963958, essv8963960, essv8963962, essv8963971, essv8963968
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)esv3399391
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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