A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892166



Internal ID18839876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27501613hg38UCSC Ensembl
Outerchr12:27495478..27501613hg38UCSC Ensembl
Innerchr12:27648411..27654546hg19UCSC Ensembl
Outerchr12:27648411..27654546hg19UCSC Ensembl
Innerchr12:27539678..27545813hg18UCSC Ensembl
Outerchr12:27539678..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386136
hg196136
hg186136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797244, essv25797832, essv25797650, essv25797788
Samples
Known GenesSMCO2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892166
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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