A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1716945



Internal ID12880063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233934818..233934818hg38UCSC Ensembl
chr1:234070564..234070564hg19UCSC Ensembl
chr1:232137187..232137187hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38312
hg19312
hg18312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4280901
SamplesHuRef
Known GenesSLC35F3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1716945
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