A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009445



Internal ID7059374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103627839..103627839hg38UCSC Ensembl
chr5:102963540..102963540hg19UCSC Ensembl
chr5:102991439..102991439hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583470
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009445
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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