A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787983



Internal ID19170465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105419159..105539309hg38UCSC Ensembl
Innerchr7:105059606..105179756hg19UCSC Ensembl
Innerchr7:104846842..104966992hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38120151
hg19120151
hg18120151
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=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787983
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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