A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1469374



Internal ID12632496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423337..39423337hg38UCSC Ensembl
chr5:39423439..39423439hg19UCSC Ensembl
chr5:39459196..39459196hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4232049
SamplesHuRef
Known GenesDAB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1469374
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