A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567749



Internal ID7039131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170133479..170133479hg38UCSC Ensembl
chr5:169560483..169560483hg19UCSC Ensembl
chr5:169493061..169493061hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004702
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567749
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