A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988056



Internal ID6724030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:149358843..149358843hg38UCSC Ensembl
chr4:150279995..150279995hg19UCSC Ensembl
chr4:150499445..150499445hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566724
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988056
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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