A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378180



Internal ID15225153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:72113756..72113775hg38UCSC Ensembl
Innerchr12:72113752..72113779hg38UCSC Ensembl
Outerchr12:72113733..72113798hg38UCSC Ensembl
chr12:72507536..72507555hg19UCSC Ensembl
Innerchr12:72507532..72507559hg19UCSC Ensembl
Outerchr12:72507513..72507578hg19UCSC Ensembl
chr12:70793803..70793822hg18UCSC Ensembl
Innerchr12:70793826..70793799hg18UCSC Ensembl
Outerchr12:70793780..70793845hg18UCSC Ensembl
Cytoband12q21.1
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 Variantsessv8677898
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378180
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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