A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790130



Internal ID18821020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507072..76918686hg38UCSC Ensembl
Innerchr7:76136389..76548003hg19UCSC Ensembl
Innerchr7:75974325..76385939hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38411615
hg19411615
hg18411615
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891147
Supporting Variants
Samples
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790130
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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