A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3869629



Internal ID11892242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46110806..46110806hg38UCSC Ensembl
chr21:47530720..47530720hg19UCSC Ensembl
chr21:46355148..46355148hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1216777
Supporting Variants
SamplesHuRef
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3869629
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