A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789434



Internal ID18830223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131299593..131498280hg38UCSC Ensembl
Innerchr2:132057166..132255853hg19UCSC Ensembl
Innerchr2:131773636..131972323hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38198688
hg19198688
hg18198688
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893359
Supporting Variants
Samples
Known GenesLINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789434
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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