A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305065



Internal ID14805327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29734667..29734668hg38UCSC Ensembl
Innerchr12:29734623..29734712hg38UCSC Ensembl
Outerchr12:29734622..29734713hg38UCSC Ensembl
chr12:29887600..29887601hg19UCSC Ensembl
Innerchr12:29887556..29887645hg19UCSC Ensembl
Outerchr12:29887555..29887646hg19UCSC Ensembl
chr12:29778867..29778868hg18UCSC Ensembl
Innerchr12:29778912..29778823hg18UCSC Ensembl
Outerchr12:29778822..29778913hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760655, essv7757261
SamplesNA18579, NA18944
Known GenesTMTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305065
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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