A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892197



Internal ID19183017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42530501..42536515hg38UCSC Ensembl
Outerchr12:42530501..42540905hg38UCSC Ensembl
Innerchr12:42924303..42930317hg19UCSC Ensembl
Outerchr12:42924303..42934707hg19UCSC Ensembl
Innerchr12:41210570..41216584hg18UCSC Ensembl
Outerchr12:41210570..41220974hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810405
hg1910405
hg1810405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787170, essv25799577, essv25798535
Samples
Known GenesPRICKLE1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892197
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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