A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1693930



Internal ID12510362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51983772..51983772hg38UCSC Ensembl
chr1:52449444..52449444hg19UCSC Ensembl
chr1:52222032..52222032hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3847906
SamplesHuRef
Known GenesRAB3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1693930
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