A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435318



Internal ID15282272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43094161..43094180hg38UCSC Ensembl
Innerchr12:43094157..43094184hg38UCSC Ensembl
Outerchr12:43094138..43094203hg38UCSC Ensembl
chr12:43487964..43487983hg19UCSC Ensembl
Innerchr12:43487960..43487987hg19UCSC Ensembl
Outerchr12:43487941..43488006hg19UCSC Ensembl
chr12:41774231..41774250hg18UCSC Ensembl
Innerchr12:41774254..41774227hg18UCSC Ensembl
Outerchr12:41774208..41774273hg18UCSC Ensembl
Cytoband12q12
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 Variantsessv8677866
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435318
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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