A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785859



Internal ID19160723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53682892..53745511hg38UCSC Ensembl
Innerchr5:52978722..53041341hg19UCSC Ensembl
Innerchr5:53014479..53077098hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3862620
hg1962620
hg1862620
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894190
Supporting Variants
Samples
Known GenesNDUFS4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785859
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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