A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7554033



Internal ID10832315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143756549..143756549hg38UCSC Ensembl
chr5:143136114..143136114hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3284466
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7554033
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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