A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303526



Internal ID15150474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106158215..106158216hg38UCSC Ensembl
Innerchr12:106158182..106158249hg38UCSC Ensembl
Outerchr12:106158181..106158250hg38UCSC Ensembl
chr12:106551993..106551994hg19UCSC Ensembl
Innerchr12:106551960..106552027hg19UCSC Ensembl
Outerchr12:106551959..106552028hg19UCSC Ensembl
chr12:105076123..105076124hg18UCSC Ensembl
Innerchr12:105076157..105076090hg18UCSC Ensembl
Outerchr12:105076089..105076158hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755066, essv7749755, essv7752692, essv7760386, essv7763186, essv7758734
SamplesNA18907, NA18523, NA19093, NA19116, NA18505, NA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303526
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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