A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789029



Internal ID18818112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102503769..102654790hg38UCSC Ensembl
Innerchr7:102144216..102295237hg19UCSC Ensembl
Innerchr7:101931221..102082473hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38151022
hg19151022
hg18151253
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891168
Supporting Variants
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789029
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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