A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660317



Internal ID9926422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142615607..142619074hg38UCSC Ensembl
Outerchr5:142615450..142619227hg38UCSC Ensembl
Innerchr5:141995172..141998639hg19UCSC Ensembl
Outerchr5:141995015..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 Variantsdgv1046e199
Supporting Variantsessv6158327, essv6509158, essv6584098, essv6176706
SamplesHG00689, NA18986, HG00443, HG00584
Known GenesFGF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660317
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