A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788023



Internal ID19168328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7489320..7638125hg38UCSC Ensembl
Innerchr7:7528951..7677756hg19UCSC Ensembl
Innerchr7:7495476..7644281hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38148806
hg19148806
hg18148806
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891035
Supporting Variants
Samples
Known GenesCOL28A1, MIOS, RPA3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788023
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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