A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784758



Internal ID18830633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102503769..102682009hg38UCSC Ensembl
Innerchr7:102144216..102322456hg19UCSC Ensembl
Innerchr7:101931221..102109692hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38178241
hg19178241
hg18178472
Variant TypeCNV loss
Copy Number1
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=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784758
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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