A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1141661



Internal ID11958098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1238642..1238642hg38UCSC Ensembl
chr5:1238757..1238757hg19UCSC Ensembl
chr5:1291757..1291757hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4045120
SamplesHuRef
Known GenesSLC6A18
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1141661
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