A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1730259



Internal ID12893377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32300695..32300695hg38UCSC Ensembl
chr21:33673006..33673006hg19UCSC Ensembl
chr21:32594877..32594877hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4177874
SamplesHuRef
Known GenesMRAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1730259
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