A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302971



Internal ID15149919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47759937..47760030hg38UCSC Ensembl
Innerchr12:47759983..47759983hg38UCSC Ensembl
Outerchr12:47759837..47760130hg38UCSC Ensembl
chr12:48153720..48153813hg19UCSC Ensembl
Innerchr12:48153766..48153766hg19UCSC Ensembl
Outerchr12:48153620..48153913hg19UCSC Ensembl
chr12:46439987..46440080hg18UCSC Ensembl
Innerchr12:46440033..46440033hg18UCSC Ensembl
Outerchr12:46439887..46440180hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736155, essv7732616, essv7733964, essv7731983, essv7732349
SamplesNA18870, NA19138, NA19108, NA19093, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302971
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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