A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416988



Internal ID15263946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..59923hg38UCSC Ensembl
Innerchr12:45925..58923hg38UCSC Ensembl
Outerchr12:45001..60923hg38UCSC Ensembl
chr12:154091..169089hg19UCSC Ensembl
Innerchr12:155091..168089hg19UCSC Ensembl
Outerchr12:153091..170089hg19UCSC Ensembl
chr12:24352..39350hg18UCSC Ensembl
Innerchr12:25352..38350hg18UCSC Ensembl
Outerchr12:23352..40350hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814923
hg1914999
hg1814999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736e59
Supporting Variantsessv8688662
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416988
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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