A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13870373



Internal ID2824582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80334907..80353061hg38UCSC Ensembl
chr10:82094663..82112817hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3818155
hg1918155
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623951
Supporting Variants
SamplesHG02493
Known GenesDYDC1, DYDC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13870373
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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