A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14890452



Internal ID586054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:107381268..107479590hg38UCSC Ensembl
chr13:108033616..108131938hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3898323
hg1998323
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633485
Supporting Variants
SamplesHG00257
Known GenesFAM155A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14890452
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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