A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583470



Internal ID7054852
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009445
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583470
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer