A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995918



Internal ID7080228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174320514..174325032hg38UCSC Ensembl
Outerchr4:175241665..175246183hg19UCSC Ensembl
Outerchr4:175478240..175482758hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg382713
hg192713
hg182713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564053
SamplesHuRef
Known GenesCEP44
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995918
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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