A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731417



Internal ID13623724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47940845..47941232hg38UCSC Ensembl
Innerchr12:47940945..47941132hg38UCSC Ensembl
Outerchr12:47940745..47941332hg38UCSC Ensembl
chr12:48334628..48335015hg19UCSC Ensembl
Innerchr12:48334728..48334915hg19UCSC Ensembl
Outerchr12:48334528..48335115hg19UCSC Ensembl
chr12:46620895..46621282hg18UCSC Ensembl
Innerchr12:46620995..46621182hg18UCSC Ensembl
Outerchr12:46620795..46621382hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38388
hg19388
hg18388
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302604
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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