A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779972



Internal ID18815452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102487446..102693659hg38UCSC Ensembl
Innerchr7:102127893..102334106hg19UCSC Ensembl
Innerchr7:101914898..102121342hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38206214
hg19206214
hg18206445
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=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779972
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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