A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893539



Internal ID18837673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206123849..206133326hg38UCSC Ensembl
Outerchr2:206123849..206133326hg38UCSC Ensembl
Innerchr2:206988573..206998050hg19UCSC Ensembl
Outerchr2:206988573..206998050hg19UCSC Ensembl
Innerchr2:206696818..206706295hg18UCSC Ensembl
Outerchr2:206696818..206706295hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg389478
hg199478
hg189478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785615
Samples
Known GenesNDUFS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893539
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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