A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433516



Internal ID14933785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71890439..71890446hg38UCSC Ensembl
Innerchr12:71890441..71890444hg38UCSC Ensembl
Outerchr12:71890437..71890448hg38UCSC Ensembl
chr12:72284219..72284226hg19UCSC Ensembl
Innerchr12:72284221..72284224hg19UCSC Ensembl
Outerchr12:72284217..72284228hg19UCSC Ensembl
chr12:70570486..70570493hg18UCSC Ensembl
Innerchr12:70570488..70570491hg18UCSC Ensembl
Outerchr12:70570484..70570495hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865591
SamplesNA12005
Known GenesTBC1D15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433516
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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