A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577050



Internal ID7048432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90295387..90295387hg38UCSC Ensembl
chr13:90947641..90947641hg19UCSC Ensembl
chr13:89745642..89745642hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38322
hg19322
hg18322
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998081
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577050
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