A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891174



Internal ID19185570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105453311..105530029hg38UCSC Ensembl
Outerchr7:105387199..105542548hg38UCSC Ensembl
Innerchr7:105093758..105170476hg19UCSC Ensembl
Outerchr7:105027646..105182995hg19UCSC Ensembl
Innerchr7:104880994..104957712hg18UCSC Ensembl
Outerchr7:104814882..104970231hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38155350
hg19155350
hg18155350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787983, essv25790879, essv25793041, essv25788000, essv25787804, essv25790715, essv25788062
Samples
Known GenesPUS7, RINT1, SRPK2
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891174
Frequency
Sample Size3017
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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