A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710838



Internal ID3031679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45374291..45385591hg38UCSC Ensembl
chr13:45948426..45959726hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3811301
hg1911301
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631954
Supporting Variants
SamplesHG02667
Known GenesTPT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710838
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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