A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892211



Internal ID18836345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66252419..66271494hg38UCSC Ensembl
Outerchr12:66252419..66271494hg38UCSC Ensembl
Innerchr12:66646199..66665274hg19UCSC Ensembl
Outerchr12:66646199..66665274hg19UCSC Ensembl
Innerchr12:64932466..64951541hg18UCSC Ensembl
Outerchr12:64932466..64951541hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3819076
hg1919076
hg1819076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25801518
Samples
Known GenesIRAK3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892211
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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