A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361588



Internal ID15208566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96971744..96971763hg38UCSC Ensembl
Innerchr12:96971740..96971767hg38UCSC Ensembl
Outerchr12:96971721..96971786hg38UCSC Ensembl
chr12:97365522..97365541hg19UCSC Ensembl
Innerchr12:97365518..97365545hg19UCSC Ensembl
Outerchr12:97365499..97365564hg19UCSC Ensembl
chr12:95889653..95889672hg18UCSC Ensembl
Innerchr12:95889676..95889649hg18UCSC Ensembl
Outerchr12:95889630..95889695hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659225, essv9659213
SamplesNA12045, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361588
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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