A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368545



Internal ID14868804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1327184..1327216hg38UCSC Ensembl
Innerchr12:1327191..1327207hg38UCSC Ensembl
Outerchr12:1327161..1327239hg38UCSC Ensembl
chr12:1436350..1436382hg19UCSC Ensembl
Innerchr12:1436357..1436373hg19UCSC Ensembl
Outerchr12:1436327..1436405hg19UCSC Ensembl
chr12:1306611..1306643hg18UCSC Ensembl
Innerchr12:1306634..1306618hg18UCSC Ensembl
Outerchr12:1306588..1306666hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8955387, essv8955386
SamplesNA18907, NA19147
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368545
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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