A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788000



Internal ID19164129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105453311..105534445hg38UCSC Ensembl
Innerchr7:105093758..105174892hg19UCSC Ensembl
Innerchr7:104880994..104962128hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3881135
hg1981135
hg1881135
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891174
Supporting Variants
Samples
Known GenesPUS7, RINT1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788000
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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