A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787292



Internal ID18832942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102577953..102682009hg38UCSC Ensembl
Innerchr7:102218400..102322456hg19UCSC Ensembl
Innerchr7:102005497..102109692hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38104057
hg19104057
hg18104196
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891171
Supporting Variants
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787292
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer