A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427754



Internal ID15274710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46680782..46680801hg38UCSC Ensembl
Innerchr12:46680755..46680828hg38UCSC Ensembl
Outerchr12:46680736..46680847hg38UCSC Ensembl
chr12:47074565..47074584hg19UCSC Ensembl
Innerchr12:47074538..47074611hg19UCSC Ensembl
Outerchr12:47074519..47074630hg19UCSC Ensembl
chr12:45360832..45360851hg18UCSC Ensembl
Innerchr12:45360878..45360805hg18UCSC Ensembl
Outerchr12:45360786..45360897hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865569
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427754
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