A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3716732



Internal ID11698452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43743569..43743569hg38UCSC Ensembl
chr21:45163450..45163450hg19UCSC Ensembl
chr21:43987878..43987878hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1717308
Supporting Variants
SamplesHuRef
Known GenesPDXK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3716732
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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