A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894190



Internal ID19185259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53682892..53745511hg38UCSC Ensembl
Outerchr5:53682892..53745511hg38UCSC Ensembl
Innerchr5:52978722..53041341hg19UCSC Ensembl
Outerchr5:52978722..53041341hg19UCSC Ensembl
Innerchr5:53014479..53077098hg18UCSC Ensembl
Outerchr5:53014479..53077098hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3862620
hg1962620
hg1862620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785859
Samples
Known GenesNDUFS4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894190
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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