A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1046e199



Internal ID22758819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142615450..142619227hg38UCSC Ensembl
chr5:141995015..141998792hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383778
hg193778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2671092, esv2660317
SamplesHG00689, NA18986, HG00443, HG00584
Known GenesFGF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1046e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer