A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785615



Internal ID18823281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206123849..206133326hg38UCSC Ensembl
Innerchr2:206988573..206998050hg19UCSC Ensembl
Innerchr2:206696818..206706295hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg389478
hg199478
hg189478
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893539
Supporting Variants
Samples
Known GenesNDUFS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785615
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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